| Symbol |
Name |
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ACTC1
|
actin, alpha, cardiac muscle 1
|
|
ACTN4
|
actinin, alpha 4
|
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
ANKH
|
ANKH inorganic pyrophosphate transport regulator
|
|
APC
|
adenomatous polyposis coli
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
COMP
|
cartilage oligomeric matrix protein
|
|
CST3
|
cystatin C
|
|
CYP11B1
|
cytochrome P450, family 11, subfamily B, polypeptide 1
|
|
CYP11B2
|
cytochrome P450, family 11, subfamily B, polypeptide 2
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
F12
|
coagulation factor XII (Hageman factor)
|
|
FAS
|
Fas cell surface death receptor
|
|
FBN2
|
fibrillin 2
|
|
FGG
|
fibrinogen gamma chain
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GLB1
|
galactosidase, beta 1
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HBB
|
hemoglobin, beta
|
|
HBG2
|
hemoglobin, gamma G
|
|
HERC5
|
HECT and RLD domain containing E3 ubiquitin protein ligase 5
|
|
HLA-DQB1
|
major histocompatibility complex, class II, DQ beta 1
|
|
HNF1B
|
HNF1 homeobox B
|
|
HOXB3
|
homeobox B3
|
|
HOXD3
|
homeobox D3
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
IGF2
|
insulin-like growth factor 2
|
|
IL10RB
|
interleukin 10 receptor, beta
|
|
INF2
|
inverted formin, FH2 and WH2 domain containing
|
|
INS
|
insulin
|
|
IRF6
|
interferon regulatory factor 6
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
MFN2
|
mitofusin 2
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NPM1
|
nucleophosmin (nucleolar phosphoprotein B23, numatrin)
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
PITX2
|
paired-like homeodomain 2
|
|
PMP22
|
peripheral myelin protein 22
|
|
PROCR
|
protein C receptor, endothelial
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RB1
|
retinoblastoma 1
|
|
RET
|
ret proto-oncogene
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RUNX1
|
runt-related transcription factor 1
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SGCE
|
sarcoglycan, epsilon
|
|
SLC40A1
|
solute carrier family 40 (iron-regulated transporter), member 1
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPINK1
|
serine peptidase inhibitor, Kazal type 1
|
|
SRY
|
sex determining region Y
|
|
SYK
|
spleen tyrosine kinase
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
THRA
|
thyroid hormone receptor, alpha
|
|
TMC6
|
transmembrane channel-like 6
|
|
TMC8
|
transmembrane channel-like 8
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TTR
|
transthyretin
|
|
UGT1A
|
UDP glucuronosyltransferase 1 family, polypeptide A complex locus
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
YWHAE
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
|
