| Disease ID | Disease name | Source of annotation with AIFM1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS609060 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY | OMIM, HUMSAVAR | link to OMIM | 29 | C12orf65, FARS2, GFM1, TARS2, MTFMT, MTO1, AIFM1, EARS2, NARS2, SFXN4, MRPS22, PNPT1, TSFM, ATP5A1, LYRM4, SLC25A26, MRPS16, MRPL3, TUFM, TRMT5, MRPL44, GTPBP3, VARS2, CARS2, RMND1, ELAC2, AARS2, TXN2, MARS2 |
| PS118220 | CHARCOT-MARIE-TOOTH DISEASE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 48 | KARS, FIG4, PRPS1, FGD4, MPZ, KIF1B, NEFL, GJB1, VCP, GDAP1, AIFM1, IGHMBP2, SH3TC2, TRIM2, JPH1, PLEKHG5, NEFH, NAGLU, TRPV4, HARS, HSPB8, HSPB1, PMP22, MED25, SPG11, SBF1, DYNC1H1, SURF1, DNM2, NDRG1, MARS, SBF2, RAB7A, MORC2, AARS, COX6A1, PDK3, DHTKD1, HK1, LMNA, LRSAM1, EGR2, PRX, MTMR2, LITAF, MFN2, YARS, GARS |
| PS609129 | AUDITORY NEUROPATHY | ClinVar, OMIM | link to OMIM | 3 | OTOF, AIFM1, DIAPH3 |
| PS304500 | DEAFNESS, X-LINKED | ClinVar, OMIM | link to OMIM | 5 | PRPS1, SMPX, AIFM1, POU3F4, COL4A6 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Apoptosis | hsa04210 | 6.23 |
| GO term | GO ID | GO IC |
|---|---|---|
| coenzyme binding | GO:0050662 | 4.53 |
| flavin adenine dinucleotide binding | GO:0050660 | 5.41 |
| protein binding | GO:0005515 | 0.46 |
| oxidoreductase activity, acting on NAD(P)H | GO:0016651 | 5.13 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| oxidoreductase activity, acting on NAD(P)H, oxygen as acceptor | GO:0050664 | 6.97 |
| NAD(P)H oxidase activity | GO:0016174 | 7.95 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| nucleotide binding | GO:0000166 | 1.96 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| cofactor binding | GO:0048037 | 4.16 |
| binding | GO:0005488 | 0.18 |
| nucleic acid binding | GO:0003676 | 1.44 |
| DNA binding | GO:0003677 | 1.92 |
| protein dimerization activity | GO:0046983 | 2.72 |
| electron carrier activity | GO:0009055 | 4.97 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| FAD binding | GO:0071949 | 7.03 |
| oxidoreductase activity | GO:0016491 | 3.12 |