dementia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior. (Human Disease Ontology, DOID_1307)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000726
Similar Terms
Downloads & Tools

Genes

77 genes associated with the dementia 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
AMN amnion associated transmembrane protein
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ATN1 atrophin 1
ATP13A2 ATPase type 13A2
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATXN10 ataxin 10
ATXN2 ataxin 2
ATXN3 ataxin 3
C10ORF2 chromosome 10 open reading frame 2
C19ORF12 chromosome 19 open reading frame 12
C9ORF72 chromosome 9 open reading frame 72
CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10
CHMP2B charged multivesicular body protein 2B
CLN3 ceroid-lipofuscinosis, neuronal 3
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
CP ceruloplasmin (ferroxidase)
CSF1R colony stimulating factor 1 receptor
CST3 cystatin C
CTSF cathepsin F
CUBN cubilin (intrinsic factor-cobalamin receptor)
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DNMT1 DNA (cytosine-5-)-methyltransferase 1
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
ERCC4 excision repair cross-complementation group 4
ERCC8 excision repair cross-complementation group 8
FMR1 fragile X mental retardation 1
FTL ferritin, light polypeptide
GBA glucosidase, beta, acid
GBA2 glucosidase, beta (bile acid) 2
GM2A GM2 ganglioside activator
GRN granulin
HEXA hexosaminidase A (alpha polypeptide)
HTRA1 HtrA serine peptidase 1
HTT huntingtin
IRF6 interferon regulatory factor 6
ITM2B integral membrane protein 2B
JPH3 junctophilin 3
LRRK2 leucine-rich repeat kinase 2
MAPT microtubule-associated protein tau
MATR3 matrin 3
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
NDP Norrie disease (pseudoglioma)
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
NOTCH3 notch 3
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
PANK2 pantothenate kinase 2
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PINK1 PTEN induced putative kinase 1
POLG polymerase (DNA directed), gamma
PPP2R2B protein phosphatase 2, regulatory subunit B, beta
PRNP prion protein
PSEN1 presenilin 1
PSEN2 presenilin 2
RNF216 ring finger protein 216
ROGDI rogdi homolog (Drosophila)
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SNCB synuclein, beta
SPAST spastin
SPG21 spastic paraplegia 21 (autosomal recessive, Mast syndrome)
TBP TATA box binding protein
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TREM2 triggering receptor expressed on myeloid cells 2
TREX1 three prime repair exonuclease 1
TTR transthyretin
TYROBP TYRO protein tyrosine kinase binding protein
UBQLN2 ubiquilin 2
VCP valosin containing protein
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
WDR45 WD repeat domain 45