Disease ID | Disease name | Source of annotation with MT-ATP6 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
500003 | STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL | OMIM, HUMSAVAR | link to OMIM | 1 | MT-ATP6 |
256000 | LEIGH SYNDROME | HUMSAVAR | link to OMIM | 27 | MT-ND5, NDUFAF2, NDUFA12, NDUFAF6, NDUFV1, NDUFA10, MTFMT, NDUFS8, BCS1L, SDHA, MT-CO3, COX10, NDUFA2, ECHS1, NDUFS3, MT-ATP6, FOXRED1, MT-ND3, IARS2, NARS2, NDUFS7, COX15, NDUFAF5, POLG, SURF1, NDUFS4, NDUFA9 |
500011 | MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 | OMIM, HUMSAVAR | link to OMIM | 1 | MT-ATP6 |
535000 | LEBER OPTIC ATROPHY | HUMSAVAR | link to OMIM | 9 | MT-ND5, MT-ATP6, MT-CO3, MT-ND4, MT-ND1, MT-CYB, MT-ND6, MT-ND4L, MT-ND2 |
551500 | NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA | OMIM, HUMSAVAR | link to OMIM | 1 | MT-ATP6 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Huntington's disease | hsa05016 | 5.17 |
Metabolic pathways | hsa01100 | 2.49 |
Alzheimer's disease | hsa05010 | 5.34 |
Parkinson's disease | hsa05012 | 5.59 |
Oxidative phosphorylation | hsa00190 | 5.69 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Metabolism | R-HSA-1430728 | 2.34 |
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | R-HSA-163200 | 6.12 |
The citric acid (TCA) cycle and respiratory electron transport | R-HSA-1428517 | 5.71 |
Formation of ATP by chemiosmotic coupling | R-HSA-163210 | 8.81 |
GO term | GO ID | GO IC |
---|---|---|
substrate-specific transmembrane transporter activity | GO:0022891 | 2.9 |
hydrolase activity | GO:0016787 | 1.9 |
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides | GO:0016818 | 3.03 |
substrate-specific transporter activity | GO:0022892 | 2.72 |
transmembrane transporter activity | GO:0022857 | 2.82 |
inorganic cation transmembrane transporter activity | GO:0022890 | 3.49 |
transporter activity | GO:0005215 | 2.57 |
cation transmembrane transporter activity | GO:0008324 | 3.32 |
nucleoside-triphosphatase activity | GO:0017111 | 3.09 |
hydrolase activity, acting on acid anhydrides | GO:0016817 | 3.03 |
ion transmembrane transporter activity | GO:0015075 | 3.04 |
catalytic activity | GO:0003824 | 1.05 |
monovalent inorganic cation transmembrane transporter activity | GO:0015077 | 3.87 |
ATPase activity | GO:0016887 | 3.65 |
pyrophosphatase activity | GO:0016462 | 3.04 |
hydrogen ion transmembrane transporter activity | GO:0015078 | 5.01 |