cerebral cortical atrophy Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Atrophy of the cortex of the cerebrum. (Human Phenotype Ontology, HP_0002120)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002120
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Genes

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

Symbol Name
ACO2 aconitase 2, mitochondrial
ACTB actin, beta
ACTG1 actin gamma 1
ADGRV1 adhesion G protein-coupled receptor V1
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
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
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALTL beta 1,3-galactosyltransferase-like
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BMP4 bone morphogenetic protein 4
BRAF B-Raf proto-oncogene, serine/threonine kinase
C10ORF2 chromosome 10 open reading frame 2
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
CLP1 cleavage and polyadenylation factor I subunit 1
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
COX1
COX2
COX3
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CYFIP1 cytoplasmic FMR1 interacting protein 1
DFNB31 deafness, autosomal recessive 31
DKC1 dyskeratosis congenita 1, dyskerin
DOLK dolichol kinase
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
EXOSC3 exosome component 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FMR1 fragile X mental retardation 1
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GLYCTK glycerate kinase
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
HIC1 hypermethylated in cancer 1
HNF1B HNF1 homeobox B
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HTT huntingtin
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNT1 potassium channel, sodium activated subfamily T, member 1
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
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
MEF2C myocyte enhancer factor 2C
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
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
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
ND1
NDE1 nudE neurodevelopment protein 1
NDP Norrie disease (pseudoglioma)
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)
PCDH15 protocadherin-related 15
PDZD7 PDZ domain containing 7
PEX7 peroxisomal biogenesis factor 7
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POMT2 protein-O-mannosyltransferase 2
PPP2R2B protein phosphatase 2, regulatory subunit B, beta
PRDM16 PR domain containing 16
PSEN1 presenilin 1
RAB18 RAB18, 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)
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
SHANK3 SH3 and multiple ankyrin repeat domains 3
SKI SKI proto-oncogene
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC2A3 solute carrier family 2 (facilitated glucose transporter), member 3
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)
TBC1D20 TBC1 domain family, member 20
TBL2 transducin (beta)-like 2
TCTN3 tectonic family member 3
TERT telomerase reverse transcriptase
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMCO1 transmembrane and coiled-coil domains 1
TMEM70 transmembrane protein 70
TREM2 triggering receptor expressed on myeloid cells 2
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TUBGCP6 tubulin, gamma complex associated protein 6
TYROBP TYRO protein tyrosine kinase binding protein
UBE3A ubiquitin protein ligase E3A
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)
VRK1 vaccinia related kinase 1
WFS1 Wolfram syndrome 1 (wolframin)
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon