Disease ID | Disease name | Source of annotation with SFXN4 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS609060 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY | ClinVar, OMIM | 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 |
Download the gene annotation in CSV format
GO term | GO ID | GO IC |
---|---|---|
substrate-specific transmembrane transporter activity | GO:0022891 | 2.9 |
ion transmembrane transporter activity | GO:0015075 | 3.04 |
transmembrane transporter activity | GO:0022857 | 2.82 |
substrate-specific transporter activity | GO:0022892 | 2.72 |
transporter activity | GO:0005215 | 2.57 |