| Symbol |
Name |
|
ADA
|
adenosine deaminase
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
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
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
CASP8
|
caspase 8, apoptosis-related cysteine peptidase
|
|
CCL11
|
chemokine (C-C motif) ligand 11
|
|
CDH3
|
cadherin 3, type 1, P-cadherin (placental)
|
|
CDSN
|
corneodesmosin
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
COMT
|
catechol-O-methyltransferase
|
|
COX4I2
|
cytochrome c oxidase subunit IV isoform 2 (lung)
|
|
DNASE1L3
|
deoxyribonuclease I-like 3
|
|
DOCK8
|
dedicator of cytokinesis 8
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC3
|
excision repair cross-complementation group 3
|
|
FLG
|
filaggrin
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GTF2H5
|
general transcription factor IIH, polypeptide 5
|
|
HIRA
|
histone cell cycle regulator
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
IDS
|
iduronate 2-sulfatase
|
|
IFT27
|
intraflagellar transport 27
|
|
IL10
|
interleukin 10
|
|
IL12RB2
|
interleukin 12 receptor, beta 2
|
|
IL23R
|
interleukin 23 receptor
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LRBA
|
LPS-responsive vesicle trafficking, beach and anchor containing
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MEFV
|
Mediterranean fever
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
NFKB2
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
PEPD
|
peptidase D
|
|
PGM3
|
phosphoglucomutase 3
|
|
PLCG2
|
phospholipase C, gamma 2 (phosphatidylinositol-specific)
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SHH
|
sonic hedgehog
|
|
SPINK5
|
serine peptidase inhibitor, Kazal type 5
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
STAT3
|
signal transducer and activator of transcription 3 (acute-phase response factor)
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
TBX1
|
T-box 1
|
|
TBX21
|
T-box 21
|
|
TLR4
|
toll-like receptor 4
|
|
TRIM32
|
tripartite motif containing 32
|
|
TSPYL1
|
TSPY-like 1
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
