| Symbol |
Name |
|
APRT
|
adenine phosphoribosyltransferase
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCR
|
breakpoint cluster region
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BTK
|
Bruton agammaglobulinemia tyrosine kinase
|
|
CARD9
|
caspase recruitment domain family, member 9
|
|
CFI
|
complement factor I
|
|
CHRM3
|
cholinergic receptor, muscarinic 3
|
|
CIITA
|
class II, major histocompatibility complex, transactivator
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLDN16
|
claudin 16
|
|
CLDN19
|
claudin 19
|
|
CLEC7A
|
C-type lectin domain family 7, member A
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL5A1
|
collagen, type V, alpha 1
|
|
COL5A2
|
collagen, type V, alpha 2
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
EFEMP2
|
EGF containing fibulin-like extracellular matrix protein 2
|
|
ELN
|
elastin
|
|
EPCAM
|
epithelial cell adhesion molecule
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
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
|
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
|
FOXC2
|
forkhead box C2
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HOXA13
|
homeobox A13
|
|
HPSE2
|
heparanase 2 (inactive)
|
|
IL17F
|
interleukin 17F
|
|
IL17RA
|
interleukin 17 receptor A
|
|
KCTD1
|
potassium channel tetramerization domain containing 1
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LIMK1
|
LIM domain kinase 1
|
|
LRIG2
|
leucine-rich repeats and immunoglobulin-like domains 2
|
|
LRRFIP2
|
leucine rich repeat (in FLII) interacting protein 2
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MLH1
|
mutL homolog 1
|
|
MLH3
|
mutL homolog 3
|
|
MNX1
|
motor neuron and pancreas homeobox 1
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
NBN
|
nibrin
|
|
PALB2
|
partner and localizer of BRCA2
|
|
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)
|
|
PNP
|
purine nucleoside phosphorylase
|
|
RAD51C
|
RAD51 paralog C
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RFX5
|
regulatory factor X, 5 (influences HLA class II expression)
|
|
RFXANK
|
regulatory factor X-associated ankyrin-containing protein
|
|
RFXAP
|
regulatory factor X-associated protein
|
|
SLC3A1
|
solute carrier family 3 (amino acid transporter heavy chain), member 1
|
|
SLC46A1
|
solute carrier family 46 (folate transporter), member 1
|
|
SLC7A9
|
solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
STAT1
|
signal transducer and activator of transcription 1, 91kDa
|
|
TBL2
|
transducin (beta)-like 2
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
THOC6
|
THO complex 6
|
|
TNXB
|
tenascin XB
|
|
TP63
|
tumor protein p63
|
|
TRAF3IP2
|
TRAF3 interacting protein 2
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
