| Symbol |
Name |
|
ALDH18A1
|
aldehyde dehydrogenase 18 family, member A1
|
|
AMPD2
|
adenosine monophosphate deaminase 2
|
|
AP4B1
|
adaptor-related protein complex 4, beta 1 subunit
|
|
AP4E1
|
adaptor-related protein complex 4, epsilon 1 subunit
|
|
AP4M1
|
adaptor-related protein complex 4, mu 1 subunit
|
|
AP4S1
|
adaptor-related protein complex 4, sigma 1 subunit
|
|
AP5Z1
|
adaptor-related protein complex 5, zeta 1 subunit
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATRIP
|
ATR interacting protein
|
|
BPTF
|
bromodomain PHD finger transcription factor
|
|
CDC42
|
cell division cycle 42
|
|
CSF1R
|
colony stimulating factor 1 receptor
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
DDHD2
|
DDHD domain containing 2
|
|
DEGS1
|
delta(4)-desaturase, sphingolipid 1
|
|
DNM1L
|
dynamin 1-like
|
|
DPM2
|
dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
FA2H
|
fatty acid 2-hydroxylase
|
|
FKRP
|
fukutin related protein
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
HIKESHI
|
heat shock protein nuclear import factor hikeshi
|
|
IL10
|
interleukin 10
|
|
ISCA2
|
iron-sulfur cluster assembly 2
|
|
KCNQ2
|
potassium channel, voltage gated KQT-like subfamily Q, member 2
|
|
LAMA1
|
laminin, alpha 1
|
|
LARGE
|
like-glycosyltransferase
|
|
LYRM7
|
LYR motif containing 7
|
|
MED13L
|
mediator complex subunit 13-like
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PSAP
|
prosaposin
|
|
RAC1
|
ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
|
|
RFWD3
|
ring finger and WD repeat domain 3
|
|
RTTN
|
rotatin
|
|
SEPSECS
|
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SSR4
|
signal sequence receptor, delta
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
TBCK
|
TBC1 domain containing kinase
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TSEN54
|
TSEN54 tRNA splicing endonuclease subunit
|
|
VPS11
|
vacuolar protein sorting 11 homolog (S. cerevisiae)
|
|
WARS2
|
tryptophanyl tRNA synthetase 2, mitochondrial
|
