| Symbol |
Name |
|
ANKS6
|
ankyrin repeat and sterile alpha motif domain containing 6
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BMPER
|
BMP binding endothelial regulator
|
|
CDC73
|
cell division cycle 73
|
|
CEP164
|
centrosomal protein 164kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COMT
|
catechol-O-methyltransferase
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
ELN
|
elastin
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
ETFA
|
electron-transfer-flavoprotein, alpha polypeptide
|
|
ETFB
|
electron-transfer-flavoprotein, beta polypeptide
|
|
ETFDH
|
electron-transferring-flavoprotein dehydrogenase
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
FLNB
|
filamin B, beta
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HIRA
|
histone cell cycle regulator
|
|
IFT80
|
intraflagellar transport 80
|
|
INVS
|
inversin
|
|
IQCB1
|
IQ motif containing B1
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
LIMK1
|
LIM domain kinase 1
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
NEK1
|
NIMA-related kinase 1
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NOTCH2
|
notch 2
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NPHP4
|
nephronophthisis 4
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PKD1
|
polycystic kidney disease 1 (autosomal dominant)
|
|
PKD2
|
polycystic kidney disease 2 (autosomal dominant)
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PRKCSH
|
protein kinase C substrate 80K-H
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
|
SEC63
|
SEC63 homolog (S. cerevisiae)
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TMEM231
|
transmembrane protein 231
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
WDR34
|
WD repeat domain 34
|
|
WDR35
|
WD repeat domain 35
|
|
WDR60
|
WD repeat domain 60
|
|
ZNF423
|
zinc finger protein 423
|
