Disease ID | Disease name | Source of annotation with MFAP5 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS607086 | AORTIC ANEURYSM, FAMILIAL THORACIC | ClinVar, OMIM, HUMSAVAR | link to OMIM | 7 | TGFBR2, ACTA2, TGFBR1, MYH11, MYLK, PRKG1, MFAP5 |
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REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Elastic fibre formation | R-HSA-1566948 | 7.49 |
Extracellular matrix organization | R-HSA-1474244 | 4.91 |
Molecules associated with elastic fibres | R-HSA-2129379 | 7.73 |
GO term | GO ID | GO IC |
---|---|---|
extracellular matrix structural constituent | GO:0005201 | 5.37 |
structural molecule activity | GO:0005198 | 3.1 |