| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
ABCB6
|
ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
|
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ACP5
|
acid phosphatase 5, tartrate resistant
|
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALAD
|
aminolevulinate dehydratase
|
|
ALAS2
|
5'-aminolevulinate synthase 2
|
|
ALDH3A2
|
aldehyde dehydrogenase 3 family, member A2
|
|
ANTXR2
|
anthrax toxin receptor 2
|
|
APC
|
adenomatous polyposis coli
|
|
APOE
|
apolipoprotein E
|
|
ATP2A2
|
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
|
|
BANF1
|
barrier to autointegration factor 1
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
CARD14
|
caspase recruitment domain family, member 14
|
|
CASR
|
calcium-sensing receptor
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
|
CPOX
|
coproporphyrinogen oxidase
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CYBA
|
cytochrome b-245, alpha polypeptide
|
|
CYBB
|
cytochrome b-245, beta polypeptide
|
|
CYP11A1
|
cytochrome P450, family 11, subfamily A, polypeptide 1
|
|
CYP11B1
|
cytochrome P450, family 11, subfamily B, polypeptide 1
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DNASE1L3
|
deoxyribonuclease I-like 3
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
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
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GBA
|
glucosidase, beta, acid
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB3
|
gap junction protein, beta 3, 31kDa
|
|
GJB4
|
gap junction protein, beta 4, 30.3kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GMPPA
|
GDP-mannose pyrophosphorylase A
|
|
GNA11
|
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GNAS
|
GNAS complex locus
|
|
HAMP
|
hepcidin antimicrobial peptide
|
|
HCCS
|
holocytochrome c synthase
|
|
HFE
|
hemochromatosis
|
|
HFE2
|
hemochromatosis type 2 (juvenile)
|
|
HGD
|
homogentisate 1,2-dioxygenase
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DQB1
|
major histocompatibility complex, class II, DQ beta 1
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HPS1
|
Hermansky-Pudlak syndrome 1
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
IGHV4-34
|
immunoglobulin heavy variable 4-34
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
INSR
|
insulin receptor
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KITLG
|
KIT ligand
|
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT14
|
keratin 14, type I
|
|
KRT5
|
keratin 5, type II
|
|
LBR
|
lamin B receptor
|
|
LYST
|
lysosomal trafficking regulator
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MC2R
|
melanocortin 2 receptor (adrenocorticotropic hormone)
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MLH1
|
mutL homolog 1
|
|
MMP14
|
matrix metallopeptidase 14 (membrane-inserted)
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MRAP
|
melanocortin 2 receptor accessory protein
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MVK
|
mevalonate kinase
|
|
MYO5A
|
myosin VA (heavy chain 12, myoxin)
|
|
NCF1
|
neutrophil cytosolic factor 1
|
|
NCF2
|
neutrophil cytosolic factor 2
|
|
NCF4
|
neutrophil cytosolic factor 4, 40kDa
|
|
NHP2
|
NHP2 ribonucleoprotein
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NOTCH3
|
notch 3
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
OCA2
|
oculocutaneous albinism II
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PANK2
|
pantothenate kinase 2
|
|
PAX6
|
paired box 6
|
|
PDGFRA
|
platelet-derived growth factor receptor, alpha polypeptide
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PPOX
|
protoporphyrinogen oxidase
|
|
PRDM16
|
PR domain containing 16
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
PTEN
|
phosphatase and tensin homolog
|
|
RAD51C
|
RAD51 paralog C
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RBM28
|
RNA binding motif protein 28
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
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
|
|
SEC23A
|
Sec23 homolog A (S. cerevisiae)
|
|
SKI
|
SKI proto-oncogene
|
|
SLC40A1
|
solute carrier family 40 (iron-regulated transporter), member 1
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SNAI2
|
snail family zinc finger 2
|
|
SPINK5
|
serine peptidase inhibitor, Kazal type 5
|
|
STK11
|
serine/threonine kinase 11
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TFR2
|
transferrin receptor 2
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TP63
|
tumor protein p63
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TYR
|
tyrosinase
|
|
UROD
|
uroporphyrinogen decarboxylase
|
|
UROS
|
uroporphyrinogen III synthase
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
WRAP53
|
WD repeat containing, antisense to TP53
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
