| Disease ID | Disease name | Source of annotation with FTL | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 615604 | L-FERRITIN DEFICIENCY | ClinVar, OMIM | link to OMIM | 1 | FTL |
| 600886 | HYPERFERRITINEMIA WITH OR WITHOUT CATARACT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | FTL |
| PS234200 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION | ClinVar, OMIM, HUMSAVAR | link to OMIM | 6 | FTL, COASY, PANK2, WDR45, C19orf12, PLA2G6 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Mineral absorption | hsa04978 | 7.09 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Transmembrane transport of small molecules | R-HSA-382551 | 3.79 |
| Binding and Uptake of Ligands by Scavenger Receptors | R-HSA-2173782 | 5.38 |
| Membrane Trafficking | R-HSA-199991 | 5.26 |
| trans-Golgi Network Vesicle Budding | R-HSA-199992 | 6.85 |
| Golgi Associated Vesicle Biogenesis | R-HSA-432722 | 7.23 |
| Iron uptake and transport | R-HSA-917937 | 7.56 |
| Scavenging by Class A Receptors | R-HSA-3000480 | 8.73 |
| Clathrin derived vesicle budding | R-HSA-421837 | 6.85 |
| Vesicle-mediated transport | R-HSA-5653656 | 4.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| cation binding | GO:0043169 | 1.4 |
| transition metal ion binding | GO:0046914 | 2.48 |
| ion binding | GO:0043167 | 1.36 |
| ferric iron binding | GO:0008199 | 7.44 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| iron ion binding | GO:0005506 | 4.65 |
| metal ion binding | GO:0046872 | 1.41 |
| identical protein binding | GO:0042802 | 2.63 |