mental deterioration Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Loss of previously present mental abilities, generally in adults. (Human Phenotype Ontology, HP_0001268)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001268
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Genes

131 genes associated with the mental deterioration 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
APTX aprataxin
ARSA arylsulfatase A
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ATN1 atrophin 1
ATP13A2 ATPase type 13A2
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATXN10 ataxin 10
ATXN2 ataxin 2
ATXN3 ataxin 3
ATXN7 ataxin 7
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C10ORF2 chromosome 10 open reading frame 2
C19ORF12 chromosome 19 open reading frame 12
C9ORF72 chromosome 9 open reading frame 72
CECR1 cat eye syndrome chromosome region, candidate 1
CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10
CHMP2B charged multivesicular body protein 2B
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)
CNTNAP2 contactin associated protein-like 2
COASY CoA synthase
COL18A1 collagen, type XVIII, alpha 1
CP ceruloplasmin (ferroxidase)
CSF1R colony stimulating factor 1 receptor
CST3 cystatin C
CSTB cystatin B (stefin B)
CTC1 CTS telomere maintenance complex component 1
CTNS cystinosin, lysosomal cystine transporter
CTSF cathepsin F
CUBN cubilin (intrinsic factor-cobalamin receptor)
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DISC2 disrupted in schizophrenia 2 (non-protein coding)
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DNMT1 DNA (cytosine-5-)-methyltransferase 1
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
ERCC2 excision repair cross-complementation group 2
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
FA2H fatty acid 2-hydroxylase
FMR1 fragile X mental retardation 1
FTL ferritin, light polypeptide
GALC galactosylceramidase
GBA glucosidase, beta, acid
GBA2 glucosidase, beta (bile acid) 2
GCH1 GTP cyclohydrolase 1
GLB1 galactosidase, beta 1
GM2A GM2 ganglioside activator
GNAS GNAS complex locus
GRN granulin
HEPACAM hepatic and glial cell adhesion molecule
HEXA hexosaminidase A (alpha polypeptide)
HEXB hexosaminidase B (beta polypeptide)
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
HTRA1 HtrA serine peptidase 1
HTT huntingtin
IDUA iduronidase, alpha-L-
IRF6 interferon regulatory factor 6
ITM2B integral membrane protein 2B
JPH3 junctophilin 3
LMNB1 lamin B1
LRRK2 leucine-rich repeat kinase 2
MAPT microtubule-associated protein tau
MATR3 matrin 3
MECP2 methyl CpG binding protein 2
MFN2 mitofusin 2
MFSD8 major facilitator superfamily domain containing 8
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
NAGLU N-acetylglucosaminidase, alpha
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
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
PANK2 pantothenate kinase 2
PDE11A phosphodiesterase 11A
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PINK1 PTEN induced putative kinase 1
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLP1 proteolipid protein 1
POLG polymerase (DNA directed), gamma
PPP2R2B protein phosphatase 2, regulatory subunit B, beta
PPT1 palmitoyl-protein thioesterase 1
PRICKLE2 prickle homolog 2 (Drosophila)
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCG protein kinase C, gamma
PRNP prion protein
PSAP prosaposin
PSEN1 presenilin 1
PSEN2 presenilin 2
PTS 6-pyruvoyltetrahydropterin synthase
QDPR quinoid dihydropteridine reductase
RAB27A RAB27A, member RAS oncogene family
RBM28 RNA binding motif protein 28
RNF216 ring finger protein 216
ROGDI rogdi homolog (Drosophila)
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
SCN1A sodium channel, voltage gated, type I alpha subunit
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SNCB synuclein, beta
SPAST spastin
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG21 spastic paraplegia 21 (autosomal recessive, Mast syndrome)
SUMF1 sulfatase modifying factor 1
SYNJ1 synaptojanin 1
TBP TATA box binding protein
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
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
XPA xeroderma pigmentosum, complementation group A