| Symbol |
Name |
|
ABCD4
|
ATP-binding cassette, sub-family D (ALD), member 4
|
|
AGA
|
aspartylglucosaminidase
|
|
AP3B1
|
adaptor-related protein complex 3, beta 1 subunit
|
|
BLNK
|
B-cell linker
|
|
CASP10
|
caspase 10, apoptosis-related cysteine peptidase
|
|
CD40
|
CD40 molecule, TNF receptor superfamily member 5
|
|
CD40LG
|
CD40 ligand
|
|
CD79A
|
CD79a molecule, immunoglobulin-associated alpha
|
|
CIITA
|
class II, major histocompatibility complex, transactivator
|
|
CXCR4
|
chemokine (C-X-C motif) receptor 4
|
|
ELANE
|
elastase, neutrophil expressed
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FANCG
|
Fanconi anemia, complementation group G
|
|
FAS
|
Fas cell surface death receptor
|
|
FASLG
|
Fas ligand (TNF superfamily, member 6)
|
|
FBXL4
|
F-box and leucine-rich repeat protein 4
|
|
FMO3
|
flavin containing monooxygenase 3
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GATA2
|
GATA binding protein 2
|
|
GFI1
|
growth factor independent 1 transcription repressor
|
|
GSS
|
glutathione synthetase
|
|
HAX1
|
HCLS1 associated protein X-1
|
|
ICOS
|
inducible T-cell co-stimulator
|
|
IGHM
|
immunoglobulin heavy constant mu
|
|
JAGN1
|
jagunal homolog 1 (Drosophila)
|
|
LAMTOR2
|
late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
|
|
LBR
|
lamin B receptor
|
|
LMBRD1
|
LMBR1 domain containing 1
|
|
MMAA
|
methylmalonic aciduria (cobalamin deficiency) cblA type
|
|
MMAB
|
methylmalonic aciduria (cobalamin deficiency) cblB type
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PGM3
|
phosphoglucomutase 3
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PNP
|
purine nucleoside phosphorylase
|
|
RFX5
|
regulatory factor X, 5 (influences HLA class II expression)
|
|
RFXANK
|
regulatory factor X-associated ankyrin-containing protein
|
|
RFXAP
|
regulatory factor X-associated protein
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RPS19
|
ribosomal protein S19
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SLC35A1
|
solute carrier family 35 (CMP-sialic acid transporter), member A1
|
|
SLC37A4
|
solute carrier family 37 (glucose-6-phosphate transporter), member 4
|
|
SLC46A1
|
solute carrier family 46 (folate transporter), member 1
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
STK4
|
serine/threonine kinase 4
|
|
STX11
|
syntaxin 11
|
|
TAZ
|
tafazzin
|
|
TCN2
|
transcobalamin II
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
VPS45
|
vacuolar protein sorting 45 homolog (S. cerevisiae)
|
|
WAS
|
Wiskott-Aldrich syndrome
|
