| Symbol |
Name |
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ACTC1
|
actin, alpha, cardiac muscle 1
|
|
AGL
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
B3GAT3
|
beta-1,3-glucuronyltransferase 3
|
|
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
|
|
BMPR2
|
bone morphogenetic protein receptor, type II (serine/threonine kinase)
|
|
CACNA1D
|
calcium channel, voltage-dependent, L type, alpha 1D subunit
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
COQ9
|
coenzyme Q9
|
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
|
DTNA
|
dystrobrevin, alpha
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
FKRP
|
fukutin related protein
|
|
GLA
|
galactosidase, alpha
|
|
GNAS
|
GNAS complex locus
|
|
GYS1
|
glycogen synthase 1 (muscle)
|
|
IFT27
|
intraflagellar transport 27
|
|
JPH2
|
junctophilin 2
|
|
LDB3
|
LIM domain binding 3
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MYOZ2
|
myozenin 2
|
|
NEXN
|
nexilin (F actin binding protein)
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NOTCH1
|
notch 1
|
|
PLN
|
phospholamban
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SGCG
|
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
|
|
SLC25A20
|
solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
|
|
SLC2A10
|
solute carrier family 2 (facilitated glucose transporter), member 10
|
|
SMAD3
|
SMAD family member 3
|
|
SSTR5
|
somatostatin receptor 5
|
|
STAMBP
|
STAM binding protein
|
|
TNNI3
|
troponin I type 3 (cardiac)
|
|
TNNT2
|
troponin T type 2 (cardiac)
|
|
TPK1
|
thiamin pyrophosphokinase 1
|
|
TRIM32
|
tripartite motif containing 32
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
