| Symbol |
Name |
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
ALDH5A1
|
aldehyde dehydrogenase 5 family, member A1
|
|
ARSA
|
arylsulfatase A
|
|
ATP13A2
|
ATPase type 13A2
|
|
BCKDHA
|
branched chain keto acid dehydrogenase E1, alpha polypeptide
|
|
BCKDHB
|
branched chain keto acid dehydrogenase E1, beta polypeptide
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CDH23
|
cadherin-related 23
|
|
CIB2
|
calcium and integrin binding family member 2
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLN6
|
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
|
|
CLRN1
|
clarin 1
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CPOX
|
coproporphyrinogen oxidase
|
|
CTSH
|
cathepsin H
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
DBT
|
dihydrolipoamide branched chain transacylase E2
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DCTN1
|
dynactin 1
|
|
DFNB31
|
deafness, autosomal recessive 31
|
|
DISC2
|
disrupted in schizophrenia 2 (non-protein coding)
|
|
DNAJC5
|
DnaJ (Hsp40) homolog, subfamily C, member 5
|
|
ECM1
|
extracellular matrix protein 1
|
|
EPM2A
|
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
GRN
|
granulin
|
|
HARS
|
histidyl-tRNA synthetase
|
|
HCRT
|
hypocretin (orexin) neuropeptide precursor
|
|
HLA-DQB1
|
major histocompatibility complex, class II, DQ beta 1
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
JPH3
|
junctophilin 3
|
|
KCNQ2
|
potassium channel, voltage gated KQT-like subfamily Q, member 2
|
|
KCNQ3
|
potassium channel, voltage gated KQT-like subfamily Q, member 3
|
|
MED12
|
mediator complex subunit 12
|
|
MLH1
|
mutL homolog 1
|
|
MOG
|
myelin oligodendrocyte glycoprotein
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
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
|
|
MYO7A
|
myosin VIIA
|
|
ND1
|
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NHLRC1
|
NHL repeat containing E3 ubiquitin protein ligase 1
|
|
P2RY11
|
purinergic receptor P2Y, G-protein coupled, 11
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PCDH15
|
protocadherin-related 15
|
|
PDZD7
|
PDZ domain containing 7
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PRNP
|
prion protein
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
SCN2A
|
sodium channel, voltage gated, type II alpha subunit
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SNCB
|
synuclein, beta
|
|
TBP
|
TATA box binding protein
|
|
TNFSF4
|
tumor necrosis factor (ligand) superfamily, member 4
|
|
TTC19
|
tetratricopeptide repeat domain 19
|
|
UPF3B
|
UPF3 regulator of nonsense transcripts homolog B (yeast)
|
|
USH1C
|
Usher syndrome 1C (autosomal recessive, severe)
|
|
USH1G
|
Usher syndrome 1G (autosomal recessive)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
ZDHHC9
|
zinc finger, DHHC-type containing 9
|
|
ZNF365
|
zinc finger protein 365
|
