Disease ID | Disease name | Source of annotation with FANCL | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS227650 | FANCONI ANEMIA | ClinVar, OMIM | link to OMIM | 18 | BRIP1, FANCL, FANCC, FANCG, FANCB, ERCC4, FANCA, SLX4, FANCI, BRCA2, UBE2T, PALB2, BRCA1, FANCD2, FANCF, FANCM, RAD51C, FANCE |
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KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Fanconi anemia pathway | hsa03460 | 7.01 |
Ubiquitin mediated proteolysis | hsa04120 | 5.63 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
DNA Repair | R-HSA-73894 | 5.8 |
Fanconi Anemia pathway | R-HSA-419524 | 8.4 |
GO term | GO ID | GO IC |
---|---|---|
ubiquitin-like protein transferase activity | GO:0019787 | 3.69 |
cation binding | GO:0043169 | 1.4 |
ubiquitin protein ligase binding | GO:0031625 | 4.17 |
ubiquitin-like protein ligase binding | GO:0044389 | 4.15 |
ubiquitin-protein transferase activity | GO:0004842 | 3.73 |
ubiquitin protein ligase activity | GO:0061630 | 4.47 |
enzyme binding | GO:0019899 | 2.27 |
ion binding | GO:0043167 | 1.36 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
metal ion binding | GO:0046872 | 1.41 |
ligase activity | GO:0016874 | 3.72 |
ubiquitin-like protein ligase activity | GO:0061659 | 4.44 |