| Symbol |
Name |
|
ABCA3
|
ATP-binding cassette, sub-family A (ABC1), member 3
|
|
ABCD3
|
ATP-binding cassette, sub-family D (ALD), member 3
|
|
ACADSB
|
acyl-CoA dehydrogenase, short/branched chain
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
AHDC1
|
AT hook, DNA binding motif, containing 1
|
|
AHI1
|
Abelson helper integration site 1
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
|
ASCL1
|
achaete-scute family bHLH transcription factor 1
|
|
ATP5A1
|
ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
|
|
B9D1
|
B9 protein domain 1
|
|
BCHE
|
butyrylcholinesterase
|
|
BRAT1
|
BRCA1-associated ATM activator 1
|
|
BTD
|
biotinidase
|
|
BUB1
|
BUB1 mitotic checkpoint serine/threonine kinase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
BUB3
|
BUB3 mitotic checkpoint protein
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CHAT
|
choline O-acetyltransferase
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CREBBP
|
CREB binding protein
|
|
CRYAB
|
crystallin, alpha B
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
CTSD
|
cathepsin D
|
|
D2HGDH
|
D-2-hydroxyglutarate dehydrogenase
|
|
DNA2
|
DNA replication helicase/nuclease 2
|
|
DPAGT1
|
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
|
DST
|
dystonin
|
|
EPOR
|
erythropoietin receptor
|
|
FBN1
|
fibrillin 1
|
|
FBP1
|
fructose-1,6-bisphosphatase 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
GBA
|
glucosidase, beta, acid
|
|
GLRA1
|
glycine receptor, alpha 1
|
|
GLUL
|
glutamate-ammonia ligase
|
|
GNAI3
|
guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IDS
|
iduronate 2-sulfatase
|
|
IDUA
|
iduronidase, alpha-L-
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KIF7
|
kinesin family member 7
|
|
LIAS
|
lipoic acid synthetase
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MT-TF
|
tRNA
|
|
MT-TH
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
ND1
|
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NEB
|
nebulin
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PCK1
|
phosphoenolpyruvate carboxykinase 1 (soluble)
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
|
PEX13
|
peroxisomal biogenesis factor 13
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
PLCB4
|
phospholipase C, beta 4
|
|
PRNP
|
prion protein
|
|
PSAP
|
prosaposin
|
|
RAI1
|
retinoic acid induced 1
|
|
RARS2
|
arginyl-tRNA synthetase 2, mitochondrial
|
|
RET
|
ret proto-oncogene
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RUNX2
|
runt-related transcription factor 2
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SFTPB
|
surfactant protein B
|
|
SH3BP2
|
SH3-domain binding protein 2
|
|
SKI
|
SKI proto-oncogene
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC6A5
|
solute carrier family 6 (neurotransmitter transporter), member 5
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SNX10
|
sorting nexin 10
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
TCF4
|
transcription factor 4
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TCTN1
|
tectonic family member 1
|
|
TCTN2
|
tectonic family member 2
|
|
TCTN3
|
tectonic family member 3
|
|
TECPR2
|
tectonin beta-propeller repeat containing 2
|
|
TMEM138
|
transmembrane protein 138
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM67
|
transmembrane protein 67
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TNXB
|
tenascin XB
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TSPYL1
|
TSPY-like 1
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
|
ZNF423
|
zinc finger protein 423
|
