| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AHI1
|
Abelson helper integration site 1
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ANK1
|
ankyrin 1, erythrocytic
|
|
ANOS1
|
anosmin 1
|
|
AR
|
androgen receptor
|
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
|
ARNT2
|
aryl-hydrocarbon receptor nuclear translocator 2
|
|
AVP
|
arginine vasopressin
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B9D1
|
B9 protein domain 1
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
BTK
|
Bruton agammaglobulinemia tyrosine kinase
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CDKN1A
|
cyclin-dependent kinase inhibitor 1A (p21, Cip1)
|
|
CDKN1B
|
cyclin-dependent kinase inhibitor 1B (p27, Kip1)
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CDKN2B
|
cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
|
|
CDKN2C
|
cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CNBP
|
CCHC-type zinc finger, nucleic acid binding protein
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CRH
|
corticotropin releasing hormone
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CYP11A1
|
cytochrome P450, family 11, subfamily A, polypeptide 1
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DUSP6
|
dual specificity phosphatase 6
|
|
EDA
|
ectodysplasin A
|
|
EDA2R
|
ectodysplasin A2 receptor
|
|
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
|
|
FEZF1
|
FEZ family zinc finger 1
|
|
FGF17
|
fibroblast growth factor 17
|
|
FGF8
|
fibroblast growth factor 8 (androgen-induced)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FLRT3
|
fibronectin leucine rich transmembrane protein 3
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
|
FOXC1
|
forkhead box C1
|
|
FOXL2
|
forkhead box L2
|
|
FSHR
|
follicle stimulating hormone receptor
|
|
GH1
|
growth hormone 1
|
|
GHRHR
|
growth hormone releasing hormone receptor
|
|
GLI2
|
GLI family zinc finger 2
|
|
GLI3
|
GLI family zinc finger 3
|
|
GMPPA
|
GDP-mannose pyrophosphorylase A
|
|
GNAS
|
GNAS complex locus
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HBB
|
hemoglobin, beta
|
|
HESX1
|
HESX homeobox 1
|
|
HFM1
|
HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)
|
|
HLA-DPB1
|
major histocompatibility complex, class II, DP beta 1
|
|
HPGD
|
hydroxyprostaglandin dehydrogenase 15-(NAD)
|
|
HS6ST1
|
heparan sulfate 6-O-sulfotransferase 1
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
IL17RD
|
interleukin 17 receptor D
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
INSR
|
insulin receptor
|
|
KIAA0196
|
KIAA0196
|
|
KIF7
|
kinesin family member 7
|
|
KISS1R
|
KISS1 receptor
|
|
LEPR
|
leptin receptor
|
|
LHCGR
|
luteinizing hormone/choriogonadotropin receptor
|
|
LHX3
|
LIM homeobox 3
|
|
LHX4
|
LIM homeobox 4
|
|
MEN1
|
multiple endocrine neoplasia I
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MT-ATP8
|
ATP synthase F0 subunit 8
|
|
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
|
|
ND1
|
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NSMF
|
NMDA receptor synaptonuclear signaling and neuronal migration factor
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PAX8
|
paired box 8
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PITX2
|
paired-like homeodomain 2
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
POMC
|
proopiomelanocortin
|
|
POU1F1
|
POU class 1 homeobox 1
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRKCA
|
protein kinase C, alpha
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PROP1
|
PROP paired-like homeobox 1
|
|
PRTN3
|
proteinase 3
|
|
PTCH1
|
patched 1
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
RAD51C
|
RAD51 paralog C
|
|
RNF216
|
ring finger protein 216
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
SECISBP2
|
SECIS binding protein 2
|
|
SEMA3A
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SHH
|
sonic hedgehog
|
|
SIX3
|
SIX homeobox 3
|
|
SIX6
|
SIX homeobox 6
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SLCO2A1
|
solute carrier organic anion transporter family, member 2A1
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
SPRY4
|
sprouty homolog 4 (Drosophila)
|
|
SSTR5
|
somatostatin receptor 5
|
|
STAG3
|
stromal antigen 3
|
|
STAT5B
|
signal transducer and activator of transcription 5B
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
TACR3
|
tachykinin receptor 3
|
|
TBX19
|
T-box 19
|
|
TBX3
|
T-box 3
|
|
TCTN1
|
tectonic family member 1
|
|
TCTN2
|
tectonic family member 2
|
|
TCTN3
|
tectonic family member 3
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TMEM138
|
transmembrane protein 138
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM67
|
transmembrane protein 67
|
|
TP63
|
tumor protein p63
|
|
TRH
|
thyrotropin-releasing hormone
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
WDR11
|
WD repeat domain 11
|
|
ZNF423
|
zinc finger protein 423
|
