| Symbol |
Name |
|
ADAMTSL4
|
ADAMTS-like 4
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
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
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CHMP1A
|
charged multivesicular body protein 1A
|
|
CHRDL1
|
chordin-like 1
|
|
CLDN16
|
claudin 16
|
|
CLRN1
|
clarin 1
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL9A1
|
collagen, type IX, alpha 1
|
|
COL9A2
|
collagen, type IX, alpha 2
|
|
COL9A3
|
collagen, type IX, alpha 3
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCB
|
Fanconi anemia, complementation group B
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FANCF
|
Fanconi anemia, complementation group F
|
|
FANCG
|
Fanconi anemia, complementation group G
|
|
FANCI
|
Fanconi anemia, complementation group I
|
|
FANCL
|
Fanconi anemia, complementation group L
|
|
FANCM
|
Fanconi anemia, complementation group M
|
|
FBN1
|
fibrillin 1
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GPR143
|
G protein-coupled receptor 143
|
|
HARS
|
histidyl-tRNA synthetase
|
|
IFT27
|
intraflagellar transport 27
|
|
KCNV2
|
potassium channel, voltage gated modifier subfamily V, member 2
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MIR184
|
microRNA 184
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MT-TS2
|
tRNA
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PCYT1A
|
phosphate cytidylyltransferase 1, choline, alpha
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
RAD51C
|
RAD51 paralog C
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
TBC1D7
|
TBC1 domain family, member 7
|
|
TBCE
|
tubulin folding cofactor E
|
|
TCF4
|
transcription factor 4
|
|
TEAD1
|
TEA domain family member 1 (SV40 transcriptional enhancer factor)
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRIM37
|
tripartite motif containing 37
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TYR
|
tyrosinase
|
|
UBE3B
|
ubiquitin protein ligase E3B
|
|
VSX1
|
visual system homeobox 1
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
