| Symbol |
Name |
|
ACE
|
angiotensin I converting enzyme
|
|
AGT
|
angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
|
|
AGTR1
|
angiotensin II receptor, type 1
|
|
ALX4
|
ALX homeobox 4
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ASCL1
|
achaete-scute family bHLH transcription factor 1
|
|
B9D1
|
B9 protein domain 1
|
|
B9D2
|
B9 protein domain 2
|
|
BMPER
|
BMP binding endothelial regulator
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CHRM3
|
cholinergic receptor, muscarinic 3
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
EFEMP2
|
EGF containing fibulin-like extracellular matrix protein 2
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
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
|
|
FBLN5
|
fibulin 5
|
|
FGF20
|
fibroblast growth factor 20
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HNF1B
|
HNF1 homeobox B
|
|
INVS
|
inversin
|
|
ITGA8
|
integrin, alpha 8
|
|
LHX1
|
LIM homeobox 1
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
NEK8
|
NIMA-related kinase 8
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PAX2
|
paired box 2
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
RAD51C
|
RAD51 paralog C
|
|
REN
|
renin
|
|
RET
|
ret proto-oncogene
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
TCTN2
|
tectonic family member 2
|
|
TCTN3
|
tectonic family member 3
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM67
|
transmembrane protein 67
|
|
TMEM70
|
transmembrane protein 70
|
|
VANGL1
|
VANGL planar cell polarity protein 1
|
|
VIPAS39
|
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
|
|
VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
