atrophy/degeneration affecting the central nervous system Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0007367
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Genes

317 genes associated with the atrophy/degeneration affecting the central nervous system phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AARS2 alanyl-tRNA synthetase 2, mitochondrial
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ACO2 aconitase 2, mitochondrial
ACTB actin, beta
ACTG1 actin gamma 1
ACY1 aminoacylase 1
ADGRV1 adhesion G protein-coupled receptor V1
ADK adenosine kinase
ADSL adenylosuccinate lyase
AGA aspartylglucosaminidase
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
AMPD2 adenosine monophosphate deaminase 2
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
ARX aristaless related homeobox
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASPA aspartoacylase
ASXL1 additional sex combs like transcriptional regulator 1
ATL1 atlastin GTPase 1
ATP10A ATPase, class V, type 10A
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATRX alpha thalassemia/mental retardation syndrome X-linked
AUH AU RNA binding protein/enoyl-CoA hydratase
B3GALTL beta 1,3-galactosyltransferase-like
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCAP31 B-cell receptor-associated protein 31
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BMP4 bone morphogenetic protein 4
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRAT1 BRCA1-associated ATM activator 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BTD biotinidase
C10ORF2 chromosome 10 open reading frame 2
C9ORF72 chromosome 9 open reading frame 72
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
CDH23 cadherin-related 23
CDKL5 cyclin-dependent kinase-like 5
CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10
CHMP2B charged multivesicular body protein 2B
CIB2 calcium and integrin binding family member 2
CISD2 CDGSH iron sulfur domain 2
CLIP2 CAP-GLY domain containing linker protein 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
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
COG4 component of oligomeric golgi complex 4
COG5 component of oligomeric golgi complex 5
COL18A1 collagen, type XVIII, alpha 1
COQ9 coenzyme Q9
COX1
COX2
COX3
CSF1R colony stimulating factor 1 receptor
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTNS cystinosin, lysosomal cystine transporter
CTSD cathepsin D
CTSF cathepsin F
CYFIP1 cytoplasmic FMR1 interacting protein 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DFNB31 deafness, autosomal recessive 31
DGUOK deoxyguanosine kinase
DHFR dihydrofolate reductase
DKC1 dyskeratosis congenita 1, dyskerin
DMPK dystrophia myotonica-protein kinase
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DOCK6 dedicator of cytokinesis 6
DOLK dolichol kinase
DPYD dihydropyrimidine dehydrogenase
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC4 excision repair cross-complementation group 4
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
EXOSC3 exosome component 3
FADD Fas (TNFRSF6)-associated via death domain
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FBXL4 F-box and leucine-rich repeat protein 4
FH fumarate hydratase
FIG4 FIG4 phosphoinositide 5-phosphatase
FMR1 fragile X mental retardation 1
FOLR1 folate receptor 1 (adult)
FUCA1 fucosidase, alpha-L- 1, tissue
FUS FUS RNA binding protein
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GALC galactosylceramidase
GBA glucosidase, beta, acid
GBA2 glucosidase, beta (bile acid) 2
GFM1 G elongation factor, mitochondrial 1
GJC2 gap junction protein, gamma 2, 47kDa
GLB1 galactosidase, beta 1
GLUL glutamate-ammonia ligase
GLYCTK glycerate kinase
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GRN granulin
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUSB glucuronidase, beta
HARS2 histidyl-tRNA synthetase 2, mitochondrial
HDAC8 histone deacetylase 8
HEPACAM hepatic and glial cell adhesion molecule
HIC1 hypermethylated in cancer 1
HNF1B HNF1 homeobox B
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HTT huntingtin
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFIH1 interferon induced with helicase C domain 1
IGHMBP2 immunoglobulin mu binding protein 2
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
KANK1 KN motif and ankyrin repeat domains 1
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNT1 potassium channel, sodium activated subfamily T, member 1
KCTD7 potassium channel tetramerization domain containing 7
KDM6A lysine (K)-specific demethylase 6A
KIAA0196 KIAA0196
KIAA2022 KIAA2022
KIF1BP KIF1 binding protein
KIF7 kinesin family member 7
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
L2HGDH L-2-hydroxyglutarate dehydrogenase
LARS2 leucyl-tRNA synthetase 2, mitochondrial
LHX1 LIM homeobox 1
LIMK1 LIM domain kinase 1
LMNB1 lamin B1
LYRM7 LYR motif containing 7
LYST lysosomal trafficking regulator
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAPT microtubule-associated protein tau
MARS2 methionyl-tRNA synthetase 2, mitochondrial
MATR3 matrin 3
MBTPS2 membrane-bound transcription factor peptidase, site 2
MECP2 methyl CpG binding protein 2
MED17 mediator complex subunit 17
MEF2C myocyte enhancer factor 2C
MFSD8 major facilitator superfamily domain containing 8
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MOGS mannosyl-oligosaccharide glucosidase
MPLKIP M-phase specific PLK1 interacting protein
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
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MUC1 mucin 1, cell surface associated
MVK mevalonate kinase
MYO5A myosin VA (heavy chain 12, myoxin)
MYO7A myosin VIIA
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NAGA N-acetylgalactosaminidase, alpha-
NBN nibrin
ND1
NDE1 nudE neurodevelopment protein 1
NDP Norrie disease (pseudoglioma)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
NIPBL Nipped-B homolog (Drosophila)
NOTCH3 notch 3
NPC1 Niemann-Pick disease, type C1
NSDHL NAD(P) dependent steroid dehydrogenase-like
OCA2 oculocutaneous albinism II
OCLN occludin
OPHN1 oligophrenin 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PANK2 pantothenate kinase 2
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PCDH15 protocadherin-related 15
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PCNA proliferating cell nuclear antigen
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDYN prodynorphin
PDZD7 PDZ domain containing 7
PEX19 peroxisomal biogenesis factor 19
PEX7 peroxisomal biogenesis factor 7
PFN1 profilin 1
PGAP1 post-GPI attachment to proteins 1
PGAP2 post-GPI attachment to proteins 2
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLP1 proteolipid protein 1
PNPLA6 patatin-like phospholipase domain containing 6
POLG polymerase (DNA directed), gamma
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POMT2 protein-O-mannosyltransferase 2
PPP2R2B protein phosphatase 2, regulatory subunit B, beta
PPT1 palmitoyl-protein thioesterase 1
PQBP1 polyglutamine binding protein 1
PRDM16 PR domain containing 16
PRNP prion protein
PSAP prosaposin
PSEN1 presenilin 1
PUF60 poly-U binding splicing factor 60KDa
QARS glutaminyl-tRNA synthetase
RAB18 RAB18, member RAS oncogene family
RAB23 RAB23, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD21 RAD21 homolog (S. pombe)
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RFC2 replication factor C (activator 1) 2, 40kDa
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
RNASEH2A ribonuclease H2, subunit A
RNASEH2B ribonuclease H2, subunit B
RNF216 ring finger protein 216
ROGDI rogdi homolog (Drosophila)
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RTEL1 regulator of telomere elongation helicase 1
RUNX2 runt-related transcription factor 2
SC5D sterol-C5-desaturase
SCN1A sodium channel, voltage gated, type I alpha subunit
SCO2 SCO2 cytochrome c oxidase assembly protein
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SERAC1 serine active site containing 1
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1
SETBP1 SET binding protein 1
SETX senataxin
SHANK3 SH3 and multiple ankyrin repeat domains 3
SKI SKI proto-oncogene
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC2A3 solute carrier family 2 (facilitated glucose transporter), member 3
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMN1 survival of motor neuron 1, telomeric
SNRPN small nuclear ribonucleoprotein polypeptide N
SOD1 superoxide dismutase 1, soluble
SPAST spastin
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
STAMBP STAM binding protein
STXBP1 syntaxin binding protein 1
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUCLG1 succinate-CoA ligase, alpha subunit
SUMF1 sulfatase modifying factor 1
TBC1D20 TBC1 domain family, member 20
TBC1D24 TBC1 domain family, member 24
TBL2 transducin (beta)-like 2
TBP TATA box binding protein
TCTN3 tectonic family member 3
TECPR2 tectonin beta-propeller repeat containing 2
TERT telomerase reverse transcriptase
TFG TRK-fused gene
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TK2 thymidine kinase 2, mitochondrial
TMCO1 transmembrane and coiled-coil domains 1
TMEM70 transmembrane protein 70
TPP1 tripeptidyl peptidase I
TREM2 triggering receptor expressed on myeloid cells 2
TREX1 three prime repair exonuclease 1
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TTC19 tetratricopeptide repeat domain 19
TUBGCP6 tubulin, gamma complex associated protein 6
TYROBP TYRO protein tyrosine kinase binding protein
UBA1 ubiquitin-like modifier activating enzyme 1
UBE3A ubiquitin protein ligase E3A
UBQLN2 ubiquilin 2
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
USH2A Usher syndrome 2A (autosomal recessive, mild)
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C
VCP valosin containing protein
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae)
VRK1 vaccinia related kinase 1
VTI1A vesicle transport through interaction with t-SNAREs 1A
WDR45 WD repeat domain 45
WDR81 WD repeat domain 81
WFS1 Wolfram syndrome 1 (wolframin)
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZBTB20 zinc finger and BTB domain containing 20
ZC4H2 zinc finger, C4H2 domain containing
ZNF335 zinc finger protein 335