| Symbol |
Name |
|
APOE
|
apolipoprotein E
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
CAMK2A
|
calcium/calmodulin-dependent protein kinase II alpha
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
COL4A5
|
collagen, type IV, alpha 5
|
|
CTBP2
|
C-terminal binding protein 2
|
|
CX3CL1
|
chemokine (C-X3-C motif) ligand 1
|
|
CX3CR1
|
chemokine (C-X3-C motif) receptor 1
|
|
DMD
|
dystrophin
|
|
ENAH
|
enabled homolog (Drosophila)
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FBN1
|
fibrillin 1
|
|
FGFR4
|
fibroblast growth factor receptor 4
|
|
GAD2
|
glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
|
|
HFE
|
hemochromatosis
|
|
HTT
|
huntingtin
|
|
ITGB4
|
integrin, beta 4
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LAMA2
|
laminin, alpha 2
|
|
LCK
|
LCK proto-oncogene, Src family tyrosine kinase
|
|
LHB
|
luteinizing hormone beta polypeptide
|
|
MAD1L1
|
MAD1 mitotic arrest deficient-like 1 (yeast)
|
|
MED23
|
mediator complex subunit 23
|
|
MEN1
|
multiple endocrine neoplasia I
|
|
NF1
|
neurofibromin 1
|
|
NUAK1
|
NUAK family, SNF1-like kinase, 1
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
PIP
|
prolactin-induced protein
|
|
PKD1
|
polycystic kidney disease 1 (autosomal dominant)
|
|
PPARD
|
peroxisome proliferator-activated receptor delta
|
|
PROS1
|
protein S (alpha)
|
|
PTEN
|
phosphatase and tensin homolog
|
|
RB1
|
retinoblastoma 1
|
|
RGS4
|
regulator of G-protein signaling 4
|
|
SCGB2A2
|
secretoglobin, family 2A, member 2
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
TAZ
|
tafazzin
|
|
TOR1A
|
torsin family 1, member A (torsin A)
|
|
TP53
|
tumor protein p53
|
|
TSC2
|
tuberous sclerosis 2
|
|
UGT1A1
|
UDP glucuronosyltransferase 1 family, polypeptide A1
|
