Disease ID | Disease name | Source of annotation with FANCD2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS227650 | FANCONI ANEMIA | ClinVar, OMIM, HUMSAVAR | 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 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Regulation of the Fanconi anemia pathway | R-HSA-419552 | 9.66 |
DNA Repair | R-HSA-73894 | 5.8 |
Fanconi Anemia pathway | R-HSA-419524 | 8.4 |
GO term | GO ID | GO IC |
---|---|---|
enzyme binding | GO:0019899 | 2.27 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
DNA polymerase binding | GO:0070182 | 7.25 |