| Symbol |
Name |
|
AGGF1
|
angiogenic factor with G patch and FHA domains 1
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
BUB1
|
BUB1 mitotic checkpoint serine/threonine kinase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
BUB3
|
BUB3 mitotic checkpoint protein
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CD27
|
CD27 molecule
|
|
CEP57
|
centrosomal protein 57kDa
|
|
DGUOK
|
deoxyguanosine kinase
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
DNASE1L3
|
deoxyribonuclease I-like 3
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
EOGT
|
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
|
|
EPCAM
|
epithelial cell adhesion molecule
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
EWSR1
|
EWS RNA-binding protein 1
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
FAH
|
fumarylacetoacetate hydrolase (fumarylacetoacetase)
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FSHR
|
follicle stimulating hormone receptor
|
|
GBA
|
glucosidase, beta, acid
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GUSB
|
glucuronidase, beta
|
|
HFE
|
hemochromatosis
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
JAK2
|
Janus kinase 2
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LBR
|
lamin B receptor
|
|
LIPA
|
lipase A, lysosomal acid, cholesterol esterase
|
|
LRRFIP2
|
leucine rich repeat (in FLII) interacting protein 2
|
|
MEFV
|
Mediterranean fever
|
|
MLH1
|
mutL homolog 1
|
|
MLH3
|
mutL homolog 3
|
|
MRPS22
|
mitochondrial ribosomal protein S22
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NOTCH1
|
notch 1
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NPC2
|
Niemann-Pick disease, type C2
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PMS1
|
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PRKCSH
|
protein kinase C substrate 80K-H
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
RHBDF2
|
rhomboid 5 homolog 2 (Drosophila)
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SEC63
|
SEC63 homolog (S. cerevisiae)
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
WT1
|
Wilms tumor 1
|
