ADHDgene Database
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Type:
  • Large-scale studies
  • Data Summary
  • Published Variant
  • Published Gene: 359
  • Published Region: 128
  • Pathway by PBA: 8
  • Study: 361

KEGG Pathway Report

Basic Info
ID hsa05010
Name Alzheimer's disease
Description  Alzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-beta (Abeta), a major component of senile plaques, has various pathological effects on cell and organelle function. The extracellular Abeta oligomers may activate caspases through activation of cell surface death receptors. Alternatively, intracellular Abeta may contribute to pathology by facilitating tau hyper-phosphorylation, disrupting mitochondria function, and triggering calcium dysfunction. To date genetic studies have revealed four genes that may be linked to autosomal dominant or familial early onset AD (FAD). These four genes include: amyloid precursor protein (APP), presenilin 1 (PS1), presenilin 2 (PS2) and apolipoprotein E (ApoE). All mutations associated with APP and PS proteins can lead to an increase in the production of Abeta peptides, specfically the more amyloidogenic form, Abeta42. FAD-linked PS1 mutation downregulates the unfolded protein response and leads to vulnerability to ER stress.
No. of Genes in ADHDgene  40
Source Pathway by Database Search

Pathway related genes in ADHDgene (count: 40)

Literature-origin genes (count: 8)

Approved Symbol Approved Name Location No. of Studies (significant/non-significant/trend)
GSK3B glycogen synthase kinase 3 beta 3q13.3 1(1/0/0)
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A 16p13.2 3(1/2/0)
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B 12p12 1(1/0/0)
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 12p13.3 1(0/1/0)
LPL lipoprotein lipase 8p22 1(0/0/1)
SNCA synuclein, alpha (non A4 component of amyloid precursor) 4q21.3-q22 1(0/1/0)
COX7B2 cytochrome c oxidase subunit VIIb2 4p12 1(0/1/0)
NOS1 nitric oxide synthase 1 (neuronal) 12q14-qter 1(1/0/0)

Genes from other sources Help(count: 32)

Approved Symbol Approved Name Location Source
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous) 11q12-q13 Mapped by significant region
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 3p26.1 Mapped by CNV
ADAM17 ADAM metallopeptidase domain 17 2p25 Mapped by significant region
PLCB2 phospholipase C, beta 2 15q15 Mapped by PBA pathway
CYCS cytochrome c, somatic 7p21.2 Mapped by CNV; Mapped by significant region
MAPK1 mitogen-activated protein kinase 1 22q11.2 Mapped by LD-proxy
ATF6 activating transcription factor 6 1q22-q23 Mapped by CNV
MAPT microtubule-associated protein tau 17q21 Mapped by LD-proxy; Mapped by PBA pathway
ITPR2 inositol 1,4,5-trisphosphate receptor, type 2 12p11.23 Mapped by LD-proxy; Mapped by literature SNP
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit Xp11.23 Mapped by LD-proxy; Mapped by PBA pathway; Mapped by literature SNP
BAD BCL2-associated agonist of cell death 11q13.1 Mapped by significant region
BACE1 beta-site APP-cleaving enzyme 1 11q23-q24 Mapped by significant region
COX4I1 cytochrome c oxidase subunit IV isoform 1 16q24.1 Mapped by significant region
PPP3R2 protein phosphatase 3, regulatory subunit B, beta 9q31 Mapped by significant region
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit 3p14.3 Mapped by PBA pathway
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit 1q32 Mapped by PBA pathway
NDUFA4L2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2 12q13.3 Mapped by CNV
RYR3 ryanodine receptor 3 15q14-q15 Mapped by CNV; Mapped by PBA pathway
NDUFA5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa 7q31.33 Mapped by CNV
UQCRC2 ubiquinol-cytochrome c reductase core protein II 16p12 Mapped by CNV; Mapped by significant region
MAPK3 mitogen-activated protein kinase 3 16p11.2 Mapped by CNV
FADD Fas (TNFRSF6)-associated via death domain 11q13.3 Mapped by significant region
APBB1 amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 11p15 Mapped by CNV
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) 11p11.11 Mapped by LD-proxy
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa 11q13 Mapped by significant region
NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) 11q13.2 Mapped by significant region
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein 11q23 Mapped by significant region
NDUFAB1 NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa 16p12.3 Mapped by significant region
NDUFC2 NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa 11q14.1 Mapped by significant region
NDUFA8 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa 9q33.2 Mapped by significant region
PLCB3 phospholipase C, beta 3 (phosphatidylinositol-specific) 11q13 Mapped by significant region
CAPN1 calpain 1, (mu/I) large subunit 11q13 Mapped by significant region

Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
Last update: Feb 26, 2014