| Symbol |
Name |
|
ALG1
|
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
|
|
ANKRD1
|
ankyrin repeat domain 1 (cardiac muscle)
|
|
APOE
|
apolipoprotein E
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CDH1
|
cadherin 1, type 1, E-cadherin (epithelial)
|
|
CDKN1B
|
cyclin-dependent kinase inhibitor 1B (p27, Kip1)
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
CYP11A1
|
cytochrome P450, family 11, subfamily A, polypeptide 1
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
EMD
|
emerin
|
|
ESR1
|
estrogen receptor 1
|
|
FMR1
|
fragile X mental retardation 1
|
|
GBA
|
glucosidase, beta, acid
|
|
GRN
|
granulin
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HP
|
haptoglobin
|
|
IGF2
|
insulin-like growth factor 2
|
|
KRT17
|
keratin 17, type I
|
|
MAPT
|
microtubule-associated protein tau
|
|
MEFV
|
Mediterranean fever
|
|
MPZ
|
myelin protein zero
|
|
MT-ND3
|
NADH dehydrogenase, subunit 3 (complex I)
|
|
MT-TS1
|
tRNA
|
|
NOTCH3
|
notch 3
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
PANK2
|
pantothenate kinase 2
|
|
PAX9
|
paired box 9
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PTEN
|
phosphatase and tensin homolog
|
|
RAC1
|
ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
|
|
RAG1
|
recombination activating gene 1
|
|
RS1
|
retinoschisin 1
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SLC25A15
|
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
|
|
TNFRSF11A
|
tumor necrosis factor receptor superfamily, member 11a, NFKB activator
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TYMP
|
thymidine phosphorylase
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
