| Symbol |
Name |
|
AARS2
|
alanyl-tRNA synthetase 2, mitochondrial
|
|
ACE
|
angiotensin I converting enzyme
|
|
AGT
|
angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
|
|
AGTR1
|
angiotensin II receptor, type 1
|
|
ATP5A1
|
ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
|
|
BMPER
|
BMP binding endothelial regulator
|
|
CHRM3
|
cholinergic receptor, muscarinic 3
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DOK7
|
docking protein 7
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
ETFA
|
electron-transfer-flavoprotein, alpha polypeptide
|
|
ETFB
|
electron-transfer-flavoprotein, beta polypeptide
|
|
ETFDH
|
electron-transferring-flavoprotein dehydrogenase
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
FANCB
|
Fanconi anemia, complementation group B
|
|
FGF20
|
fibroblast growth factor 20
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
FUZ
|
fuzzy planar cell polarity protein
|
|
GLE1
|
GLE1 RNA export mediator
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
HOXD13
|
homeobox D13
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT172
|
intraflagellar transport 172
|
|
IFT80
|
intraflagellar transport 80
|
|
INVS
|
inversin
|
|
ITGA8
|
integrin, alpha 8
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
LBR
|
lamin B receptor
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LMNA
|
lamin A/C
|
|
LTBP4
|
latent transforming growth factor beta binding protein 4
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NEK1
|
NIMA-related kinase 1
|
|
NEK8
|
NIMA-related kinase 8
|
|
NELFA
|
negative elongation factor complex member A
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
PAX2
|
paired box 2
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PSAT1
|
phosphoserine aminotransferase 1
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RARB
|
retinoic acid receptor, beta
|
|
REN
|
renin
|
|
RET
|
ret proto-oncogene
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
STRA6
|
stimulated by retinoic acid 6
|
|
TCTN3
|
tectonic family member 3
|
|
TRIP11
|
thyroid hormone receptor interactor 11
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TTC21B
|
tetratricopeptide repeat domain 21B
|
|
VANGL1
|
VANGL planar cell polarity protein 1
|
|
WDR19
|
WD repeat domain 19
|
|
WDR34
|
WD repeat domain 34
|
|
WDR35
|
WD repeat domain 35
|
|
WDR60
|
WD repeat domain 60
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
WNT3
|
wingless-type MMTV integration site family, member 3
|
|
WNT4
|
wingless-type MMTV integration site family, member 4
|
|
WT1
|
Wilms tumor 1
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
