| Symbol |
Name |
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
AP4E1
|
adaptor-related protein complex 4, epsilon 1 subunit
|
|
AP4M1
|
adaptor-related protein complex 4, mu 1 subunit
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CCR6
|
chemokine (C-C motif) receptor 6
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CHRM3
|
cholinergic receptor, muscarinic 3
|
|
CTGF
|
connective tissue growth factor
|
|
DLAT
|
dihydrolipoamide S-acetyltransferase
|
|
FERMT1
|
fermitin family member 1
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FOXG1
|
forkhead box G1
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
IRF5
|
interferon regulatory factor 5
|
|
LBR
|
lamin B receptor
|
|
MECP2
|
methyl CpG binding protein 2
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NRXN1
|
neurexin 1
|
|
PAK3
|
p21 protein (Cdc42/Rac)-activated kinase 3
|
|
POLR3A
|
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SETD5
|
SET domain containing 5
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
|
TP63
|
tumor protein p63
|
|
TUBB2B
|
tubulin, beta 2B class IIb
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
