Disease ID | Disease name | Source of annotation with PGAP2 | 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 |
---|---|---|
protein transporter activity | GO:0008565 | 5.17 |
transporter activity | GO:0005215 | 2.57 |
substrate-specific transporter activity | GO:0022892 | 2.72 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |