Disease ID | Disease name | Source of annotation with ATP6AP2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
300911 | PARKINSONISM WITH SPASTICITY, X-LINKED | ClinVar, OMIM | link to OMIM | 1 | ATP6AP2 |
PS309510 | MENTAL RETARDATION, X-LINKED SYNDROMIC | ClinVar, OMIM | link to OMIM | 27 | AP1S2, PRPS1, IGBP1, RBMX, HUWE1, RAB40AL, HSD17B10, ATP6AP2, PHF8, CLIC2, CASK, TAF1, FGD1, CUL4B, PQBP1, ZDHHC9, NONO, UPF3B, SMS, HDAC8, UBE2A, MECP2, KDM5C, ARX, SLC9A6, GRIA3, PHF6 |
Download the gene annotation in CSV format
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Metabolism of Angiotensinogen to Angiotensins | R-HSA-2022377 | 8.98 |
Metabolism of proteins | R-HSA-392499 | 3.41 |
Peptide hormone metabolism | R-HSA-2980736 | 6.61 |
GO term | GO ID | GO IC |
---|---|---|
catalytic activity | GO:0003824 | 1.05 |
enzyme binding | GO:0019899 | 2.27 |
molecular transducer activity | GO:0060089 | 2.32 |
receptor activity | GO:0004872 | 2.32 |
protein binding | GO:0005515 | 0.46 |
binding | GO:0005488 | 0.18 |