cerebral atrophy Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. (Human Phenotype Ontology, HP_0002059)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002059
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Genes

265 genes associated with the cerebral atrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
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
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
ASXL1 additional sex combs like transcriptional regulator 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
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)
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
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
COL18A1 collagen, type XVIII, alpha 1
COQ9 coenzyme Q9
COX1
COX2
COX3
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
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
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
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
FUCA1 fucosidase, alpha-L- 1, tissue
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GALC galactosylceramidase
GBA glucosidase, beta, acid
GBA2 glucosidase, beta (bile acid) 2
GJC2 gap junction protein, gamma 2, 47kDa
GLB1 galactosidase, beta 1
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
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)
IFIH1 interferon induced with helicase C domain 1
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
KIAA2022 KIAA2022
KIF1BP KIF1 binding protein
KIF7 kinesin family member 7
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
LARS2 leucyl-tRNA synthetase 2, mitochondrial
LHX1 LIM homeobox 1
LIMK1 LIM domain kinase 1
LMNB1 lamin B1
LYRM7 LYR motif containing 7
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MARS2 methionyl-tRNA synthetase 2, mitochondrial
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-
ND1
NDE1 nudE neurodevelopment protein 1
NDP Norrie disease (pseudoglioma)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NOTCH3 notch 3
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)
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PCDH15 protocadherin-related 15
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDZD7 PDZ domain containing 7
PEX19 peroxisomal biogenesis factor 19
PEX7 peroxisomal biogenesis factor 7
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)
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
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
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1
SETBP1 SET binding protein 1
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
SNRPN small nuclear ribonucleoprotein polypeptide N
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
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
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
UBE3A ubiquitin protein ligase E3A
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)
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
WFS1 Wolfram syndrome 1 (wolframin)
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZC4H2 zinc finger, C4H2 domain containing
ZNF335 zinc finger protein 335