Disease ID | Disease name | Source of annotation with GJA5 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS608583 | ATRIAL FIBRILLATION, FAMILIAL | ClinVar, OMIM, HUMSAVAR | link to OMIM | 13 | SCN3B, NUP155, ABCC9, KCNA5, GJA5, SCN4B, SCN2B, SCN5A, KCNE2, KCNJ2, KCNQ1, NPPA, SCN1B |
108770 | ATRIAL STANDSTILL 1 | OMIM, HUMSAVAR | link to OMIM | 2 | GJA5, SCN5A |
Download the gene annotation in CSV format
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Membrane Trafficking | R-HSA-199991 | 5.26 |
Gap junction trafficking | R-HSA-190828 | 7.59 |
Vesicle-mediated transport | R-HSA-5653656 | 4.33 |
Gap junction trafficking and regulation | R-HSA-157858 | 7.52 |
Gap junction assembly | R-HSA-190861 | 8.03 |
GO term | GO ID | GO IC |
---|---|---|
connexin binding | GO:0071253 | 8.13 |
protein binding | GO:0005515 | 0.46 |
transporter activity | GO:0005215 | 2.57 |
gap junction channel activity involved in cell communication by electrical coupling | GO:1903763 | 9.05 |
transmembrane transporter activity | GO:0022857 | 2.82 |
channel activity | GO:0015267 | 3.6 |
wide pore channel activity | GO:0022829 | 6.6 |
gap junction hemi-channel activity | GO:0055077 | 8.35 |
gap junction channel activity involved in cardiac conduction electrical coupling | GO:0086075 | 9.05 |
passive transmembrane transporter activity | GO:0022803 | 3.6 |
gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling | GO:0086077 | 9.74 |
gap junction channel activity | GO:0005243 | 7.1 |
binding | GO:0005488 | 0.18 |