| Symbol |
Name |
|
ABCB4
|
ATP-binding cassette, sub-family B (MDR/TAP), member 4
|
|
ABCC2
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 2
|
|
ABCD3
|
ATP-binding cassette, sub-family D (ALD), member 3
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
ALAS2
|
5'-aminolevulinate synthase 2
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ATP8B1
|
ATPase, aminophospholipid transporter, class I, type 8B, member 1
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
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
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CIITA
|
class II, major histocompatibility complex, transactivator
|
|
CIRH1A
|
cirrhosis, autosomal recessive 1A (cirhin)
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COMT
|
catechol-O-methyltransferase
|
|
ELN
|
elastin
|
|
ENG
|
endoglin
|
|
EPCAM
|
epithelial cell adhesion molecule
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
FECH
|
ferrochelatase
|
|
GATA6
|
GATA binding protein 6
|
|
GBA
|
glucosidase, beta, acid
|
|
GDF2
|
growth differentiation factor 2
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HBB
|
hemoglobin, beta
|
|
HIRA
|
histone cell cycle regulator
|
|
HNF1B
|
HNF1 homeobox B
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
IFT27
|
intraflagellar transport 27
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
JAG1
|
jagged 1
|
|
JAK2
|
Janus kinase 2
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LBR
|
lamin B receptor
|
|
LIMK1
|
LIM domain kinase 1
|
|
LRRFIP2
|
leucine rich repeat (in FLII) interacting protein 2
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MLH1
|
mutL homolog 1
|
|
MLH3
|
mutL homolog 3
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PHKG2
|
phosphorylase kinase, gamma 2 (testis)
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PMS1
|
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PTPN3
|
protein tyrosine phosphatase, non-receptor type 3
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RFX5
|
regulatory factor X, 5 (influences HLA class II expression)
|
|
RFX6
|
regulatory factor X, 6
|
|
RFXANK
|
regulatory factor X-associated ankyrin-containing protein
|
|
RFXAP
|
regulatory factor X-associated protein
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SMAD4
|
SMAD family member 4
|
|
STK11
|
serine/threonine kinase 11
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM67
|
transmembrane protein 67
|
|
TRIM32
|
tripartite motif containing 32
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
