| Symbol |
Name |
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ACP5
|
acid phosphatase 5, tartrate resistant
|
|
ADA
|
adenosine deaminase
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ARNT2
|
aryl-hydrocarbon receptor nuclear translocator 2
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BUB1
|
BUB1 mitotic checkpoint serine/threonine kinase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
BUB3
|
BUB3 mitotic checkpoint protein
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COMT
|
catechol-O-methyltransferase
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
DCLRE1C
|
DNA cross-link repair 1C
|
|
DUOX2
|
dual oxidase 2
|
|
DUOXA2
|
dual oxidase maturation factor 2
|
|
EFEMP2
|
EGF containing fibulin-like extracellular matrix protein 2
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
ELN
|
elastin
|
|
FBLN5
|
fibulin 5
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXE1
|
forkhead box E1
|
|
FOXI1
|
forkhead box I1
|
|
FOXP3
|
forkhead box P3
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GLIS3
|
GLIS family zinc finger 3
|
|
GNAS
|
GNAS complex locus
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HBB
|
hemoglobin, beta
|
|
HESX1
|
HESX homeobox 1
|
|
HIRA
|
histone cell cycle regulator
|
|
HNF1B
|
HNF1 homeobox B
|
|
HPD
|
4-hydroxyphenylpyruvate dioxygenase
|
|
HSD17B3
|
hydroxysteroid (17-beta) dehydrogenase 3
|
|
IL2RG
|
interleukin 2 receptor, gamma
|
|
IL7R
|
interleukin 7 receptor
|
|
IYD
|
iodotyrosine deiodinase
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KISS1R
|
KISS1 receptor
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
LEPR
|
leptin receptor
|
|
LHX3
|
LIM homeobox 3
|
|
LHX4
|
LIM homeobox 4
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LIMK1
|
LIM domain kinase 1
|
|
LRBA
|
LPS-responsive vesicle trafficking, beach and anchor containing
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
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
|
|
|
NIN
|
ninein (GSK3B interacting protein)
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NPHS1
|
nephrosis 1, congenital, Finnish type (nephrin)
|
|
PAX8
|
paired box 8
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PMM2
|
phosphomannomutase 2
|
|
POU1F1
|
POU class 1 homeobox 1
|
|
PRDM16
|
PR domain containing 16
|
|
PROP1
|
PROP paired-like homeobox 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
RAB40AL
|
RAB40A, member RAS oncogene family-like
|
|
RAG1
|
recombination activating gene 1
|
|
RAG2
|
recombination activating gene 2
|
|
RAI1
|
retinoic acid induced 1
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SETBP1
|
SET binding protein 1
|
|
SHH
|
sonic hedgehog
|
|
SKI
|
SKI proto-oncogene
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC5A5
|
solute carrier family 5 (sodium/iodide cotransporter), member 5
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
STAT3
|
signal transducer and activator of transcription 3 (acute-phase response factor)
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TF
|
transferrin
|
|
TG
|
thyroglobulin
|
|
THRA
|
thyroid hormone receptor, alpha
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TPO
|
thyroid peroxidase
|
|
TRH
|
thyrotropin-releasing hormone
|
|
TRHR
|
thyrotropin-releasing hormone receptor
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TSHB
|
thyroid stimulating hormone, beta
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
VIPAS39
|
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
|
|
VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
