central nervous system disease Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system. (Human Disease Ontology, DOID_331)
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Genes

374 genes involed in the disease central nervous system disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
AARS alanyl-tRNA synthetase
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ACO2 aconitase 2, mitochondrial
ACTB actin, beta
ADAM10 ADAM metallopeptidase domain 10
ADCK3 aarF domain containing kinase 3
ADSL adenylosuccinate lyase
AFG3L2 AFG3-like AAA ATPase 2
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
AMPD2 adenosine monophosphate deaminase 2
ANG angiogenin, ribonuclease, RNase A family, 5
ANO10 anoctamin 10
ANO3 anoctamin 3
AP5Z1 adaptor-related protein complex 5, zeta 1 subunit
APLP1 amyloid beta (A4) precursor-like protein 1
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
APTX aprataxin
AR androgen receptor
ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9
ARL6IP1 ADP-ribosylation factor-like 6 interacting protein 1
ARSA arylsulfatase A
ARSB arylsulfatase B
ARX aristaless related homeobox
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASPA aspartoacylase
ATF1 activating transcription factor 1
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATL1 atlastin GTPase 1
ATM ATM serine/threonine kinase
ATN1 atrophin 1
ATP13A2 ATPase type 13A2
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATXN1 ataxin 1
ATXN10 ataxin 10
ATXN2 ataxin 2
ATXN3 ataxin 3
ATXN7 ataxin 7
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
BCAP31 B-cell receptor-associated protein 31
BEAN1 brain expressed, associated with NEDD4, 1
BICD2 bicaudal D homolog 2 (Drosophila)
BRAT1 BRCA1-associated ATM activator 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BTBD9 BTB (POZ) domain containing 9
C10ORF2 chromosome 10 open reading frame 2
C12ORF65 chromosome 12 open reading frame 65
C19ORF12 chromosome 19 open reading frame 12
C9ORF72 chromosome 9 open reading frame 72
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CASR calcium-sensing receptor
CDK5 cyclin-dependent kinase 5
CDKL5 cyclin-dependent kinase-like 5
CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10
CHD2 chromodomain helicase DNA binding protein 2
CHMP2B charged multivesicular body protein 2B
CHRNA2 cholinergic receptor, nicotinic, alpha 2 (neuronal)
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal)
CIZ1 CDKN1A interacting zinc finger protein 1
CLCN1 chloride channel, voltage-sensitive 1
CLCN2 chloride channel, voltage-sensitive 2
CLN3 ceroid-lipofuscinosis, neuronal 3
CLN5 ceroid-lipofuscinosis, neuronal 5
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CLP1 cleavage and polyadenylation factor I subunit 1
CNTN2 contactin 2 (axonal)
CNTNAP2 contactin associated protein-like 2
COASY CoA synthase
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
CPA6 carboxypeptidase A6
CSTB cystatin B (stefin B)
CTSD cathepsin D
CTSF cathepsin F
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2U1 cytochrome P450, family 2, subfamily U, polypeptide 1
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DAGLA diacylglycerol lipase, alpha
DCAF8 DDB1 and CUL4 associated factor 8
DCTN1 dynactin 1
DCX doublecortin
DDHD1 DDHD domain containing 1
DDHD2 DDHD domain containing 2
DEPDC5 DEP domain containing 5
DHTKD1 dehydrogenase E1 and transketolase domain containing 1
DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6
DNM2 dynamin 2
DOCK7 dedicator of cytokinesis 7
DPP6 dipeptidyl-peptidase 6
DRD2 dopamine receptor D2
DRD5 dopamine receptor D5
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EEF2 eukaryotic translation elongation factor 2
EFHC1 EF-hand domain (C-terminal) containing 1
EGR2 early growth response 2
EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
EIF4G1 eukaryotic translation initiation factor 4 gamma, 1
EML1 echinoderm microtubule associated protein like 1
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
ERBB4 erb-b2 receptor tyrosine kinase 4
ERLIN2 ER lipid raft associated 2
FA2H fatty acid 2-hydroxylase
FAM126A family with sequence similarity 126, member A
FBXO38 F-box protein 38
FBXO7 F-box protein 7
FGD4 FYVE, RhoGEF and PH domain containing 4
FGF14 fibroblast growth factor 14
FGGY FGGY carbohydrate kinase domain containing
FIG4 FIG4 phosphoinositide 5-phosphatase
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FMR1 fragile X mental retardation 1
FOLR1 folate receptor 1 (adult)
FOXC1 forkhead box C1
FTL ferritin, light polypeptide
FUS FUS RNA binding protein
FXN frataxin
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GALC galactosylceramidase
GAN gigaxonin
GARS glycyl-tRNA synthetase
GBA glucosidase, beta, acid
GBA2 glucosidase, beta (bile acid) 2
GCH1 GTP cyclohydrolase 1
GDAP1 ganglioside induced differentiation associated protein 1
GFAP glial fibrillary acidic protein
GIGYF2 GRB10 interacting GYF protein 2
GJB1 gap junction protein, beta 1, 32kDa
GJC2 gap junction protein, gamma 2, 47kDa
GLB1 galactosidase, beta 1
GM2A GM2 ganglioside activator
GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4
GOSR2 golgi SNAP receptor complex member 2
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GRM1 glutamate receptor, metabotropic 1
GRN granulin
GSK3A glycogen synthase kinase 3 alpha
GSK3B glycogen synthase kinase 3 beta
HEXA hexosaminidase A (alpha polypeptide)
HEXB hexosaminidase B (beta polypeptide)
HIP1 huntingtin interacting protein 1
HK1 hexokinase 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HNRNPA1 heterogeneous nuclear ribonucleoprotein A1
HSPB1 heat shock 27kDa protein 1
HSPB3 heat shock 27kDa protein 3
HSPB8 heat shock 22kDa protein 8
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HTRA2 HtrA serine peptidase 2
HTT huntingtin
IER3IP1 immediate early response 3 interacting protein 1
IGHMBP2 immunoglobulin mu binding protein 2
IL2RA interleukin 2 receptor, alpha
IL7R interleukin 7 receptor
INF2 inverted formin, FH2 and WH2 domain containing
ITM2B integral membrane protein 2B
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
KARS lysyl-tRNA synthetase
KCNC3 potassium channel, voltage gated Shaw related subfamily C, member 3
KCND3 potassium channel, voltage gated Shal related subfamily D, member 3
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
KCNT1 potassium channel, sodium activated subfamily T, member 1
KIAA0196 KIAA0196
KIAA0226 KIAA0226
KIF1A kinesin family member 1A
KIF1B kinesin family member 1B
KIF1C kinesin family member 1C
KIF5A kinesin family member 5A
L1CAM L1 cell adhesion molecule
LGI1 leucine-rich, glioma inactivated 1
LITAF lipopolysaccharide-induced TNF factor
LMNA lamin A/C
LMNB1 lamin B1
LRRK2 leucine-rich repeat kinase 2
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
MAP2K5 mitogen-activated protein kinase kinase 5
MAPK10 mitogen-activated protein kinase 10
MAPT microtubule-associated protein tau
MARS2 methionyl-tRNA synthetase 2, mitochondrial
MATR3 matrin 3
MED25 mediator complex subunit 25
MEF2C myocyte enhancer factor 2C
MEIS1 Meis homeobox 1
MFN2 mitofusin 2
MFSD8 major facilitator superfamily domain containing 8
MPZ myelin protein zero
MTMR2 myotubularin related protein 2
MTPAP mitochondrial poly(A) polymerase
NAGA N-acetylgalactosaminidase, alpha-
NALCN sodium leak channel, non selective
NDRG1 N-myc downstream regulated 1
NECAP1 NECAP endocytosis associated 1
NEFH neurofilament, heavy polypeptide
NEFL neurofilament, light polypeptide
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
NOP56 NOP56 ribonucleoprotein
NOTCH3 notch 3
NT5C2 5'-nucleotidase, cytosolic II
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OPTN optineurin
PANK2 pantothenate kinase 2
PARK2 parkin RBR E3 ubiquitin protein ligase
PARK7 parkinson protein 7
PCDH19 protocadherin 19
PDK3 pyruvate dehydrogenase kinase, isozyme 3
PDYN prodynorphin
PFN1 profilin 1
PHF6 PHD finger protein 6
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5
PINK1 PTEN induced putative kinase 1
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PLD3 phospholipase D family, member 3
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLP1 proteolipid protein 1
PMP22 peripheral myelin protein 22
PNKD paroxysmal nonkinesigenic dyskinesia
PNPLA6 patatin-like phospholipase domain containing 6
PNPO pyridoxamine 5'-phosphate oxidase
POLG polymerase (DNA directed), gamma
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POLR3B polymerase (RNA) III (DNA directed) polypeptide B
PPP2R2B protein phosphatase 2, regulatory subunit B, beta
PPP5C protein phosphatase 5, catalytic subunit
PPT1 palmitoyl-protein thioesterase 1
PRICKLE1 prickle homolog 1 (Drosophila)
PRICKLE2 prickle homolog 2 (Drosophila)
PRKCG protein kinase C, gamma
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
PRNP prion protein
PRPH peripherin
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRRT2 proline-rich transmembrane protein 2
PRX periaxin
PSAP prosaposin
PSEN1 presenilin 1
PSEN2 presenilin 2
PTPRD protein tyrosine phosphatase, receptor type, D
QARS glutaminyl-tRNA synthetase
RAB7A RAB7A, member RAS oncogene family
RALGPS2 Ral GEF with PH domain and SH3 binding motif 2
REEP1 receptor accessory protein 1
REEP2 receptor accessory protein 2
ROGDI rogdi homolog (Drosophila)
RTN2 reticulon 2
SACS sacsin molecular chaperone
SBF1 SET binding factor 1
SBF2 SET binding factor 2
SCARB2 scavenger receptor class B, member 2
SCN11A sodium channel, voltage gated, type XI alpha subunit
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN1B sodium channel, voltage gated, type I beta subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SEPT9 septin 9
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1
SETX senataxin
SGCE sarcoglycan, epsilon
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SIGMAR1 sigma non-opioid intracellular receptor 1
SIRT2 sirtuin 2
SKOR1 SKI family transcriptional corepressor 1
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC19A3 solute carrier family 19 (thiamine transporter), member 3
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SLITRK1 SLIT and NTRK-like family, member 1
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SNCAIP synuclein, alpha interacting protein
SNIP1 Smad nuclear interacting protein 1
SOD1 superoxide dismutase 1, soluble
SORL1 sortilin-related receptor, L(DLR class) A repeats containing
SPAST spastin
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG20 spastic paraplegia 20 (Troyer syndrome)
SPG21 spastic paraplegia 21 (autosomal recessive, Mast syndrome)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
SPTAN1 spectrin, alpha, non-erythrocytic 1
SPTBN2 spectrin, beta, non-erythrocytic 2
SRPX2 sushi-repeat containing protein, X-linked 2
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
STXBP1 syntaxin binding protein 1
SUMF1 sulfatase modifying factor 1
SYN1 synapsin I
SYNE1 spectrin repeat containing, nuclear envelope 1
SYNJ1 synaptojanin 1
SYT14 synaptotagmin XIV
SZT2 seizure threshold 2 homolog (mouse)
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
TARDBP TAR DNA binding protein
TBC1D24 TBC1 domain family, member 24
TBP TATA box binding protein
TCF4 transcription factor 4
TDP1 tyrosyl-DNA phosphodiesterase 1
TECPR2 tectonin beta-propeller repeat containing 2
TFG TRK-fused gene
TGM6 transglutaminase 6
TH tyrosine hydroxylase
THAP1 THAP domain containing, apoptosis associated protein 1
TMEM106B transmembrane protein 106B
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TOR1A torsin family 1, member A (torsin A)
TOX3 TOX high mobility group box family member 3
TPP1 tripeptidyl peptidase I
TREX1 three prime repair exonuclease 1
TRIM2 tripartite motif containing 2
TRPM7 transient receptor potential cation channel, subfamily M, member 7
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSC1 tuberous sclerosis 1
TTBK2 tau tubulin kinase 2
TXNDC12 thioredoxin domain containing 12 (endoplasmic reticulum)
UBA1 ubiquitin-like modifier activating enzyme 1
UBQLN2 ubiquilin 2
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C
VCP valosin containing protein
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VPS35 vacuolar protein sorting 35 homolog (S. cerevisiae)
VPS37A vacuolar protein sorting 37 homolog A (S. cerevisiae)
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae)
WDR45 WD repeat domain 45
WWOX WW domain containing oxidoreductase
YARS tyrosyl-tRNA synthetase
ZEB2 zinc finger E-box binding homeobox 2
ZFYVE26 zinc finger, FYVE domain containing 26
ZFYVE27 zinc finger, FYVE domain containing 27
ZIC1 Zic family member 1
ZIC4 Zic family member 4
ZNF592 zinc finger protein 592