| Symbol |
Name |
|
AP3B1
|
adaptor-related protein complex 3, beta 1 subunit
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
BLOC1S3
|
biogenesis of lysosomal organelles complex-1, subunit 3
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
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)
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
HPS1
|
Hermansky-Pudlak syndrome 1
|
|
HPS4
|
Hermansky-Pudlak syndrome 4
|
|
HPS5
|
Hermansky-Pudlak syndrome 5
|
|
HPS6
|
Hermansky-Pudlak syndrome 6
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KRT71
|
keratin 71, type II
|
|
KRT74
|
keratin 74, type II
|
|
LAMTOR2
|
late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
|
|
LIPH
|
lipase, member H
|
|
LPAR6
|
lysophosphatidic acid receptor 6
|
|
LYST
|
lysosomal trafficking regulator
|
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MLPH
|
melanophilin
|
|
MYO5A
|
myosin VA (heavy chain 12, myoxin)
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NHP2
|
NHP2 ribonucleoprotein
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
OCA2
|
oculocutaneous albinism II
|
|
PAH
|
phenylalanine hydroxylase
|
|
PAX3
|
paired box 3
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PEPD
|
peptidase D
|
|
RAB27A
|
RAB27A, member RAS oncogene family
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC45A2
|
solute carrier family 45, member 2
|
|
SNAI2
|
snail family zinc finger 2
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TP63
|
tumor protein p63
|
|
TYR
|
tyrosinase
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
UROC1
|
urocanate hydratase 1
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
WRAP53
|
WD repeat containing, antisense to TP53
|
|
WRN
|
Werner syndrome, RecQ helicase-like
|
