| Symbol |
Name |
|
ABCB6
|
ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
|
|
ACP5
|
acid phosphatase 5, tartrate resistant
|
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
AIRE
|
autoimmune regulator
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALAD
|
aminolevulinate dehydratase
|
|
ANTXR1
|
anthrax toxin receptor 1
|
|
AP3B1
|
adaptor-related protein complex 3, beta 1 subunit
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
BLOC1S3
|
biogenesis of lysosomal organelles complex-1, subunit 3
|
|
BLOC1S6
|
biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BTK
|
Bruton agammaglobulinemia tyrosine kinase
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CBS
|
cystathionine-beta-synthase
|
|
CCR6
|
chemokine (C-C motif) receptor 6
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTGF
|
connective tissue growth factor
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CTSC
|
cathepsin C
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DTNBP1
|
dystrobrevin binding protein 1
|
|
EDN3
|
endothelin 3
|
|
EDNRB
|
endothelin receptor type B
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERF
|
Ets2 repressor factor
|
|
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
|
|
FERMT1
|
fermitin family member 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
HCCS
|
holocytochrome c synthase
|
|
HFE
|
hemochromatosis
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HPS1
|
Hermansky-Pudlak syndrome 1
|
|
HPS4
|
Hermansky-Pudlak syndrome 4
|
|
HPS5
|
Hermansky-Pudlak syndrome 5
|
|
HPS6
|
Hermansky-Pudlak syndrome 6
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IRF5
|
interferon regulatory factor 5
|
|
KIAA0319L
|
KIAA0319-like
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT14
|
keratin 14, type I
|
|
KRT5
|
keratin 5, type II
|
|
LAMTOR2
|
late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
|
|
LEMD3
|
LEM domain containing 3
|
|
LYST
|
lysosomal trafficking regulator
|
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MEN1
|
multiple endocrine neoplasia I
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MLPH
|
melanophilin
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MT-TF
|
tRNA
|
|
MT-TH
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
MYO5A
|
myosin VA (heavy chain 12, myoxin)
|
|
ND1
|
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NHP2
|
NHP2 ribonucleoprotein
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
OCA2
|
oculocutaneous albinism II
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
PAH
|
phenylalanine hydroxylase
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PAX3
|
paired box 3
|
|
PCNT
|
pericentrin
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
RAB27A
|
RAB27A, member RAS oncogene family
|
|
RAD51C
|
RAD51 paralog C
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC45A2
|
solute carrier family 45, member 2
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SNAI2
|
snail family zinc finger 2
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
TCF4
|
transcription factor 4
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TMC6
|
transmembrane channel-like 6
|
|
TMC8
|
transmembrane channel-like 8
|
|
TP63
|
tumor protein p63
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TWIST2
|
twist family bHLH transcription factor 2
|
|
TYR
|
tyrosinase
|
|
TYRP1
|
tyrosinase-related protein 1
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UROD
|
uroporphyrinogen decarboxylase
|
|
UROS
|
uroporphyrinogen III synthase
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
WRAP53
|
WD repeat containing, antisense to TP53
|
|
XPC
|
xeroderma pigmentosum, complementation group C
|
