| Symbol |
Name |
|
ABCB4
|
ATP-binding cassette, sub-family B (MDR/TAP), member 4
|
|
AGL
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
|
|
ANKS6
|
ankyrin repeat and sterile alpha motif domain containing 6
|
|
AP1S1
|
adaptor-related protein complex 1, sigma 1 subunit
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ASL
|
argininosuccinate lyase
|
|
B9D1
|
B9 protein domain 1
|
|
B9D2
|
B9 protein domain 2
|
|
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
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CEP164
|
centrosomal protein 164kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DGUOK
|
deoxyguanosine kinase
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
DOLK
|
dolichol kinase
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
EOGT
|
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
|
|
GPD1
|
glycerol-3-phosphate dehydrogenase 1 (soluble)
|
|
HAMP
|
hepcidin antimicrobial peptide
|
|
HFE2
|
hemochromatosis type 2 (juvenile)
|
|
IFT122
|
intraflagellar transport 122
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT172
|
intraflagellar transport 172
|
|
IFT27
|
intraflagellar transport 27
|
|
IFT80
|
intraflagellar transport 80
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
INSR
|
insulin receptor
|
|
INVS
|
inversin
|
|
IQCB1
|
IQ motif containing B1
|
|
LIPA
|
lipase A, lysosomal acid, cholesterol esterase
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MPI
|
mannose phosphate isomerase
|
|
NEK1
|
NIMA-related kinase 1
|
|
NEK8
|
NIMA-related kinase 8
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NOTCH1
|
notch 1
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NPHP4
|
nephronophthisis 4
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PMM2
|
phosphomannomutase 2
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
|
SLC40A1
|
solute carrier family 40 (iron-regulated transporter), member 1
|
|
TCTN2
|
tectonic family member 2
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM67
|
transmembrane protein 67
|
|
TRIM32
|
tripartite motif containing 32
|
|
TTC37
|
tetratricopeptide repeat domain 37
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR34
|
WD repeat domain 34
|
|
WDR35
|
WD repeat domain 35
|
|
WDR60
|
WD repeat domain 60
|
