Disease ID | Disease name | Source of annotation with NAGPA | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS184450 | STUTTERING, FAMILIAL PERSISTENT | ClinVar | link to OMIM | 2 | NAGPA, AP4E1 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Lysosome | hsa04142 | 5.78 |
GO term | GO ID | GO IC |
---|---|---|
hydrolase activity | GO:0016787 | 1.9 |
hydrolase activity, acting on glycosyl bonds | GO:0016798 | 4.91 |
hexosaminidase activity | GO:0015929 | 7.03 |
catalytic activity | GO:0003824 | 1.05 |
hydrolase activity, hydrolyzing O-glycosyl compounds | GO:0004553 | 5.14 |
N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity | GO:0003944 | 9.74 |