| Symbol |
Name |
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARX
|
aristaless related homeobox
|
|
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
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CHMP2B
|
charged multivesicular body protein 2B
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
IFT27
|
intraflagellar transport 27
|
|
JAG1
|
jagged 1
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MYCN
|
v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NF1
|
neurofibromin 1
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SHH
|
sonic hedgehog
|
|
SLC25A15
|
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPRED1
|
sprouty-related, EVH1 domain containing 1
|
|
STIM1
|
stromal interaction molecule 1
|
|
SYN1
|
synapsin I
|
|
TBX1
|
T-box 1
|
|
TERC
|
telomerase RNA component
|
|
TRIM32
|
tripartite motif containing 32
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TUBB2B
|
tubulin, beta 2B class IIb
|
|
TUBB3
|
tubulin, beta 3 class III
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|