| Symbol |
Name |
|
ACE
|
angiotensin I converting enzyme
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ACTG2
|
actin, gamma 2, smooth muscle, enteric
|
|
AGT
|
angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
|
|
AGTR1
|
angiotensin II receptor, type 1
|
|
ALG1
|
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
ALX4
|
ALX homeobox 4
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ASCL1
|
achaete-scute family bHLH transcription factor 1
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B9D1
|
B9 protein domain 1
|
|
B9D2
|
B9 protein domain 2
|
|
BMPER
|
BMP binding endothelial regulator
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BSND
|
barttin CLCNK-type chloride channel accessory beta subunit
|
|
BUB1
|
BUB1 mitotic checkpoint serine/threonine kinase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
BUB3
|
BUB3 mitotic checkpoint protein
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CD96
|
CD96 molecule
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHRM3
|
cholinergic receptor, muscarinic 3
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CLCNKA
|
chloride channel, voltage-sensitive Ka
|
|
CLCNKB
|
chloride channel, voltage-sensitive Kb
|
|
CNTN1
|
contactin 1
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CREBBP
|
CREB binding protein
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNM2
|
dynamin 2
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
DOK7
|
docking protein 7
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
EFEMP2
|
EGF containing fibulin-like extracellular matrix protein 2
|
|
ERBB3
|
erb-b2 receptor tyrosine kinase 3
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
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
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FLNB
|
filamin B, beta
|
|
FLT4
|
fms-related tyrosine kinase 4
|
|
FLVCR2
|
feline leukemia virus subgroup C cellular receptor family, member 2
|
|
FOXE1
|
forkhead box E1
|
|
FOXF1
|
forkhead box F1
|
|
GBA
|
glucosidase, beta, acid
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GLE1
|
GLE1 RNA export mediator
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
HADHA
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
|
|
HADHB
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HIC1
|
hypermethylated in cancer 1
|
|
HNF1B
|
HNF1 homeobox B
|
|
HOXD13
|
homeobox D13
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
IBA57
|
IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
|
|
INPPL1
|
inositol polyphosphate phosphatase-like 1
|
|
INVS
|
inversin
|
|
ITGA6
|
integrin, alpha 6
|
|
ITGA8
|
integrin, alpha 8
|
|
ITGB4
|
integrin, beta 4
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCNJ1
|
potassium channel, inwardly rectifying subfamily J, member 1
|
|
KIF7
|
kinesin family member 7
|
|
LBR
|
lamin B receptor
|
|
LHX1
|
LIM homeobox 1
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LMNA
|
lamin A/C
|
|
MAFB
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MRPS22
|
mitochondrial ribosomal protein S22
|
|
MTM1
|
myotubularin 1
|
|
MYCN
|
v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
NEB
|
nebulin
|
|
NEK8
|
NIMA-related kinase 8
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PAX2
|
paired box 2
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PKLR
|
pyruvate kinase, liver and RBC
|
|
PLEC
|
plectin
|
|
PMM2
|
phosphomannomutase 2
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
PRRX1
|
paired related homeobox 1
|
|
PSAT1
|
phosphoserine aminotransferase 1
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
RAD51C
|
RAD51 paralog C
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
REN
|
renin
|
|
RET
|
ret proto-oncogene
|
|
RIT1
|
Ras-like without CAAX 1
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SETBP1
|
SET binding protein 1
|
|
SLC12A1
|
solute carrier family 12 (sodium/potassium/chloride transporter), member 1
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC26A3
|
solute carrier family 26 (anion exchanger), member 3
|
|
SLC35D1
|
solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SOX17
|
SRY (sex determining region Y)-box 17
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SPINT2
|
serine peptidase inhibitor, Kunitz type, 2
|
|
STRADA
|
STE20-related kinase adaptor alpha
|
|
TCTN2
|
tectonic family member 2
|
|
TCTN3
|
tectonic family member 3
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM67
|
transmembrane protein 67
|
|
TMEM70
|
transmembrane protein 70
|
|
TRIP11
|
thyroid hormone receptor interactor 11
|
|
TSEN54
|
TSEN54 tRNA splicing endonuclease subunit
|
|
TTC37
|
tetratricopeptide repeat domain 37
|
|
TTC7A
|
tetratricopeptide repeat domain 7A
|
|
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)
|
|
VTI1A
|
vesicle transport through interaction with t-SNAREs 1A
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR34
|
WD repeat domain 34
|
|
WDR60
|
WD repeat domain 60
|
|
WNT3
|
wingless-type MMTV integration site family, member 3
|
|
YWHAE
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
