Disease ID | Disease name | Source of annotation with ITIH4 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
143890 | HYPERCHOLESTEROLEMIA, FAMILIAL | OMIM | link to OMIM | 10 | APOA2, ITIH4, EPHX2, PCSK9, STAP1, PPP1R17, ABCA1, APOB, LDLR, GHR |
Download the gene annotation in CSV format
GO term | GO ID | GO IC |
---|---|---|
peptidase inhibitor activity | GO:0030414 | 4.55 |
enzyme regulator activity | GO:0030234 | 2.85 |
peptidase regulator activity | GO:0061134 | 4.37 |
protein binding | GO:0005515 | 0.46 |
endopeptidase inhibitor activity | GO:0004866 | 4.6 |
serine-type endopeptidase inhibitor activity | GO:0004867 | 5.16 |
enzyme inhibitor activity | GO:0004857 | 3.78 |
molecular function regulator | GO:0098772 | 2.51 |
endopeptidase regulator activity | GO:0061135 | 4.57 |
binding | GO:0005488 | 0.18 |