| Symbol |
Name |
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALG8
|
ALG8, alpha-1,3-glucosyltransferase
|
|
ANO1
|
anoctamin 1, calcium activated chloride channel
|
|
APPL1
|
adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1
|
|
B9D2
|
B9 protein domain 2
|
|
BBS10
|
Bardet-Biedl syndrome 10
|
|
BBS4
|
Bardet-Biedl syndrome 4
|
|
BLK
|
BLK proto-oncogene, Src family tyrosine kinase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CDC73
|
cell division cycle 73
|
|
CEL
|
carboxyl ester lipase
|
|
CEP120
|
centrosomal protein 120kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP55
|
centrosomal protein 55kDa
|
|
CLPB
|
ClpB homolog, mitochondrial AAA ATPase chaperonin
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
EGFR
|
epidermal growth factor receptor
|
|
EPO
|
erythropoietin
|
|
FKBP1A
|
FK506 binding protein 1A, 12kDa
|
|
FLCN
|
folliculin
|
|
FLNB
|
filamin B, beta
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GLI3
|
GLI family zinc finger 3
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
HNF1A
|
HNF1 homeobox A
|
|
HNF1B
|
HNF1 homeobox B
|
|
HNF4A
|
hepatocyte nuclear factor 4, alpha
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
IFNG
|
interferon, gamma
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT80
|
intraflagellar transport 80
|
|
INS
|
insulin
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KLF11
|
Kruppel-like factor 11
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAPKBP1
|
mitogen-activated protein kinase binding protein 1
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MSH3
|
mutS homolog 3
|
|
NEUROD1
|
neuronal differentiation 1
|
|
NOTCH2
|
notch 2
|
|
NRIP1
|
nuclear receptor interacting protein 1
|
|
P2RX7
|
purinergic receptor P2X, ligand gated ion channel, 7
|
|
PAEP
|
progestagen-associated endometrial protein
|
|
PAX2
|
paired box 2
|
|
PAX4
|
paired box 4
|
|
PDSS2
|
prenyl (decaprenyl) diphosphate synthase, subunit 2
|
|
PDX1
|
pancreatic and duodenal homeobox 1
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX10
|
peroxisomal biogenesis factor 10
|
|
PEX13
|
peroxisomal biogenesis factor 13
|
|
PEX6
|
peroxisomal biogenesis factor 6
|
|
PIGR
|
polymeric immunoglobulin receptor
|
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
|
PKD1
|
polycystic kidney disease 1 (autosomal dominant)
|
|
PKD2
|
polycystic kidney disease 2 (autosomal dominant)
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PMM2
|
phosphomannomutase 2
|
|
POSTN
|
periostin, osteoblast specific factor
|
|
PRDM16
|
PR domain containing 16
|
|
PREP
|
prolyl endopeptidase
|
|
PRKCSH
|
protein kinase C substrate 80K-H
|
|
PRKD1
|
protein kinase D1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
PUF60
|
poly-U binding splicing factor 60KDa
|
|
RAD51C
|
RAD51 paralog C
|
|
RERE
|
arginine-glutamic acid dipeptide (RE) repeats
|
|
RMND1
|
required for meiotic nuclear division 1 homolog (S. cerevisiae)
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SCT
|
secretin
|
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
|
SEC61A1
|
Sec61 alpha 1 subunit (S. cerevisiae)
|
|
SELE
|
selectin E
|
|
SETBP1
|
SET binding protein 1
|
|
SKI
|
SKI proto-oncogene
|
|
SMYD2
|
SET and MYND domain containing 2
|
|
SNRPB
|
small nuclear ribonucleoprotein polypeptides B and B1
|
|
SPARC
|
secreted protein, acidic, cysteine-rich (osteonectin)
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TIMP2
|
TIMP metallopeptidase inhibitor 2
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TRRAP
|
transformation/transcription domain-associated protein
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
WDR34
|
WD repeat domain 34
|
|
WDR35
|
WD repeat domain 35
|
|
WDR60
|
WD repeat domain 60
|
|
ZNF148
|
zinc finger protein 148
|
