| Symbol |
Name |
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
AGXT
|
alanine-glyoxylate aminotransferase
|
|
ALDH3A2
|
aldehyde dehydrogenase 3 family, member A2
|
|
APOE
|
apolipoprotein E
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
BEST1
|
bestrophin 1
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
CDH3
|
cadherin 3, type 1, P-cadherin (placental)
|
|
CDK4
|
cyclin-dependent kinase 4
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CDKN2B
|
cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
|
|
CDKN2D
|
cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL9A1
|
collagen, type IX, alpha 1
|
|
COL9A2
|
collagen, type IX, alpha 2
|
|
COL9A3
|
collagen, type IX, alpha 3
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
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
|
|
HBB
|
hemoglobin, beta
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DPB1
|
major histocompatibility complex, class II, DP beta 1
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IL10
|
interleukin 10
|
|
IL12B
|
interleukin 12B
|
|
IL12RB2
|
interleukin 12 receptor, beta 2
|
|
IL23R
|
interleukin 23 receptor
|
|
KIF11
|
kinesin family member 11
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
|
MCOLN1
|
mucolipin 1
|
|
MEFV
|
Mediterranean fever
|
|
MFSD8
|
major facilitator superfamily domain containing 8
|
|
MLX
|
MLX, MAX dimerization protein
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
MT-TK
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MTTP
|
microsomal triglyceride transfer protein
|
|
NELFA
|
negative elongation factor complex member A
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
POT1
|
protection of telomeres 1
|
|
PROS1
|
protein S (alpha)
|
|
PRTN3
|
proteinase 3
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TLR4
|
toll-like receptor 4
|
|
TMEM231
|
transmembrane protein 231
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRNE
|
|
|
TULP1
|
tubby like protein 1
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
