Disease ID | Disease name | Source of annotation with COX15 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
256000 | LEIGH SYNDROME | OMIM, HUMSAVAR | link to OMIM | 27 | MT-ND5, NDUFAF2, NDUFA12, NDUFAF6, NDUFV1, NDUFA10, MTFMT, NDUFS8, BCS1L, SDHA, MT-CO3, COX10, NDUFA2, ECHS1, NDUFS3, MT-ATP6, SURF1, MT-ND3, IARS2, NARS2, NDUFS7, COX15, NDUFAF5, POLG, FOXRED1, NDUFS4, NDUFA9 |
615119 | CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | COX15 |
PS601462 | MYASTHENIC SYNDROME, CONGENITAL | ClinVar | link to OMIM | 23 | LRP4, CHRNE, DOK7, CHRNB1, CHAT, COX10, COLQ, COL13A1, DPAGT1, ALG14, MUSK, AGRN, SNAP25, SURF1, GFPT1, CHRNA1, RAPSN, CHRND, SCN4A, TACO1, SYT2, COX15, ALG2 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Porphyrin and chlorophyll metabolism | hsa00860 | 7.41 |
Metabolic pathways | hsa01100 | 2.49 |
Oxidative phosphorylation | hsa00190 | 5.69 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Heme biosynthesis | R-HSA-189451 | 9.52 |
Metabolism | R-HSA-1430728 | 2.34 |
Metabolism of porphyrins | R-HSA-189445 | 8.89 |
GO term | GO ID | GO IC |
---|---|---|
substrate-specific transmembrane transporter activity | GO:0022891 | 2.9 |
inorganic cation transmembrane transporter activity | GO:0022890 | 3.49 |
substrate-specific transporter activity | GO:0022892 | 2.72 |
transporter activity | GO:0005215 | 2.57 |
oxidoreductase activity, acting on the CH-CH group of donors | GO:0016627 | 5.66 |
cation transmembrane transporter activity | GO:0008324 | 3.32 |
cytochrome-c oxidase activity | GO:0004129 | 6.34 |
transmembrane transporter activity | GO:0022857 | 2.82 |
ion transmembrane transporter activity | GO:0015075 | 3.04 |
catalytic activity | GO:0003824 | 1.05 |
monovalent inorganic cation transmembrane transporter activity | GO:0015077 | 3.87 |
oxidoreductase activity, acting on a heme group of donors, oxygen as acceptor | GO:0016676 | 6.34 |
oxidoreductase activity, acting on NAD(P)H | GO:0016651 | 5.13 |
oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor | GO:0016653 | 7.44 |
oxidoreductase activity, acting on a heme group of donors | GO:0016675 | 6.3 |
oxidoreductase activity | GO:0016491 | 3.12 |
hydrogen ion transmembrane transporter activity | GO:0015078 | 5.01 |
heme-copper terminal oxidase activity | GO:0015002 | 6.34 |
electron carrier activity | GO:0009055 | 4.97 |