| Symbol |
Name |
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ACADS
|
acyl-CoA dehydrogenase, C-2 to C-3 short chain
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
ALDH5A1
|
aldehyde dehydrogenase 5 family, member A1
|
|
ATP13A2
|
ATPase type 13A2
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DNMT1
|
DNA (cytosine-5-)-methyltransferase 1
|
|
EPM2A
|
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
|
GNAS
|
GNAS complex locus
|
|
GSS
|
glutathione synthetase
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
ITM2B
|
integral membrane protein 2B
|
|
KCNT1
|
potassium channel, sodium activated subfamily T, member 1
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NHLRC1
|
NHL repeat containing E3 ubiquitin protein ligase 1
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NPC2
|
Niemann-Pick disease, type C2
|
|
PAH
|
phenylalanine hydroxylase
|
|
PAK3
|
p21 protein (Cdc42/Rac)-activated kinase 3
|
|
PARK7
|
parkinson protein 7
|
|
PCDH19
|
protocadherin 19
|
|
PDE11A
|
phosphodiesterase 11A
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PPOX
|
protoporphyrinogen oxidase
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRNP
|
prion protein
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SLC7A7
|
solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOBP
|
sine oculis binding protein homolog (Drosophila)
|
|
TBC1D7
|
TBC1 domain family, member 7
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TTC19
|
tetratricopeptide repeat domain 19
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
