Disease ID | Disease name | Source of annotation with MCFD2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
613625 | FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | MCFD2 |
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REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Post-translational protein modification | R-HSA-597592 | 4.54 |
Transport to the Golgi and subsequent modification | R-HSA-948021 | 7.81 |
Metabolism of proteins | R-HSA-392499 | 3.41 |
Asparagine N-linked glycosylation | R-HSA-446203 | 6.1 |
GO term | GO ID | GO IC |
---|---|---|
metal ion binding | GO:0046872 | 1.41 |
ion binding | GO:0043167 | 1.36 |
binding | GO:0005488 | 0.18 |
cation binding | GO:0043169 | 1.4 |
calcium ion binding | GO:0005509 | 3.17 |