Disease ID | Disease name | Source of annotation with PGAP3 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS239300 | HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 6 | PIGW, PIGV, PIGO, PIGY, PGAP2, PGAP3 |
Download the gene annotation in CSV format
GO term | GO ID | GO IC |
---|---|---|
hydrolase activity | GO:0016787 | 1.9 |
hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
catalytic activity | GO:0003824 | 1.05 |