| Symbol |
Name |
|
ALMS1
|
Alstrom syndrome protein 1
|
|
AQP2
|
aquaporin 2 (collecting duct)
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARNT2
|
aryl-hydrocarbon receptor nuclear translocator 2
|
|
AVP
|
arginine vasopressin
|
|
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
|
|
BMP4
|
bone morphogenetic protein 4
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
GLA
|
galactosidase, alpha
|
|
GLI2
|
GLI family zinc finger 2
|
|
HESX1
|
HESX homeobox 1
|
|
HLA-DPB1
|
major histocompatibility complex, class II, DP beta 1
|
|
IFT27
|
intraflagellar transport 27
|
|
LHX4
|
LIM homeobox 4
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PRTN3
|
proteinase 3
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
SIX3
|
SIX homeobox 3
|
|
SIX6
|
SIX homeobox 6
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
STRADA
|
STE20-related kinase adaptor alpha
|
|
TP63
|
tumor protein p63
|
|
TRIM32
|
tripartite motif containing 32
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
VIPAS39
|
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
|
|
VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
