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KEGG Pathway Report
Basic Info
| ID | hsa05012 |
|---|---|
| Name | Parkinson's disease |
| Description | Parkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic neurons in the substantia nigra. Mutations in alpha-synuclein, UCHL1 (a ubiquitin carboxy-terminal hydrolase L1), parkin, DJ1 (a parkin-associated protein involved with oxidative stress), and PINK1 (a putative serine threonine kinase) are known to cause early-onset PD. These pathogenic mutations are associated with disease through pathogenic pathways that may commonly lead proteasome dysfunction, mitochondrial impairment, and oxidative stress. Point mutations in alpha-synuclein lead to excessive intracellular accumulation and protofibril formation. Decrease in the amount of soluble alpha-synuclein tends to increase free cytoplasmic dopamine and the formation of reactive oxygen species (ROS). Modification of parkin and UCHL1 are associated with the ubiquitin-proteasome system pathway and may increase proteotoxic stress. Mutations in parkin, DJ1, and PINK1 may alter mitochondiral activity, potentially impairing proteasomal function. Environmental toxins such as N-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) and rotenone can cause mitochondrial dysfunction and oxidative stress. |
| No. of Genes in ADHDgene | 22 |
| Source | Pathway by Database Search |
Pathway related genes in ADHDgene (count: 22)
Literature-origin genes (count: 6)
| Approved Symbol | Approved Name | Location | No. of Studies (significant/non-significant/trend)  |
|---|---|---|---|
| SNCA | synuclein, alpha (non A4 component of amyloid precursor) | 4q21.3-q22 | 1(0/1/0) |
| TH | tyrosine hydroxylase | 11p15.5 | 7(2/5/0) |
| COX7B2 | cytochrome c oxidase subunit VIIb2 | 4p12 | 1(0/1/0) |
| PARK2 | parkinson protein 2, E3 ubiquitin protein ligase (parkin) | 6q25.2-q27 | 1(1/0/0) |
| SLC6A3 | solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 | 5p15.3 | 68(42/25/1) |
| SLC18A2 | solute carrier family 18 (vesicular monoamine), member 2 | 10q25 | 2(0/2/0) |
Genes from other sources (count: 16)
| Approved Symbol | Approved Name | Location | Source |
|---|---|---|---|
| NDUFA4L2 | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2 | 12q13.3 | Mapped by CNV |
| NDUFA5 | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa | 7q31.33 | Mapped by CNV |
| COX8A | cytochrome c oxidase subunit VIIIA (ubiquitous) | 11q12-q13 | Mapped by significant region |
| UQCRC2 | ubiquinol-cytochrome c reductase core protein II | 16p12 | Mapped by CNV; Mapped by significant region |
| UBB | ubiquitin B | 17p12-p11.2 | Mapped by significant region |
| UBE2L6 | ubiquitin-conjugating enzyme E2L 6 | 11q12.1 | Mapped by significant region |
| CYCS | cytochrome c, somatic | 7p21.2 | Mapped by CNV; Mapped by significant region |
| 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 |
| COX4I1 | cytochrome c oxidase subunit IV isoform 1 | 16q24.1 | Mapped by significant region |
| NDUFA8 | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa | 9q33.2 | Mapped by significant region |
| SEPT5 | septin 5 | 22q11.2 | Mapped by CNV |