| Symbol |
Name |
|
ABCB6
|
ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
|
|
ALAD
|
aminolevulinate dehydratase
|
|
ALAS2
|
5'-aminolevulinate synthase 2
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
CHD2
|
chromodomain helicase DNA binding protein 2
|
|
CPOX
|
coproporphyrinogen oxidase
|
|
CYBA
|
cytochrome b-245, alpha polypeptide
|
|
CYBB
|
cytochrome b-245, beta polypeptide
|
|
DDB2
|
damage-specific DNA binding protein 2, 48kDa
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
EPM2A
|
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC3
|
excision repair cross-complementation group 3
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC5
|
excision repair cross-complementation group 5
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
FECH
|
ferrochelatase
|
|
FERMT1
|
fermitin family member 1
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GJB3
|
gap junction protein, beta 3, 31kDa
|
|
GJB4
|
gap junction protein, beta 4, 30.3kDa
|
|
GTF2H5
|
general transcription factor IIH, polypeptide 5
|
|
HFE
|
hemochromatosis
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
MVK
|
mevalonate kinase
|
|
NBN
|
nibrin
|
|
NCF1
|
neutrophil cytosolic factor 1
|
|
NCF2
|
neutrophil cytosolic factor 2
|
|
NCF4
|
neutrophil cytosolic factor 4, 40kDa
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NHLRC1
|
NHL repeat containing E3 ubiquitin protein ligase 1
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
PCNA
|
proliferating cell nuclear antigen
|
|
PEPD
|
peptidase D
|
|
POLH
|
polymerase (DNA directed), eta
|
|
PPOX
|
protoporphyrinogen oxidase
|
|
RECQL4
|
RecQ protein-like 4
|
|
SAMHD1
|
SAM domain and HD domain 1
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
TP63
|
tumor protein p63
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TYRP1
|
tyrosinase-related protein 1
|
|
UROD
|
uroporphyrinogen decarboxylase
|
|
UROS
|
uroporphyrinogen III synthase
|
|
UVSSA
|
UV-stimulated scaffold protein A
|
|
WNT10A
|
wingless-type MMTV integration site family, member 10A
|
|
XPA
|
xeroderma pigmentosum, complementation group A
|
|
XPC
|
xeroderma pigmentosum, complementation group C
|
