Disease ID | Disease name | Source of annotation with GJA8 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS116200 | CATARACT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 33 | GCNT2, CRYGD, VIM, CRYBB2, PITX3, UNC45B, BFSP1, GJA8, MAF, AGK, EPHA2, CRYBB3, MIP, CRYBA2, CRYGS, CRYBB1, FYCO1, SIPA1L3, CRYAB, GJA3, BFSP2, TDRD7, HSF4, CHMP4B, CRYAA, LIM2, WFS1, CRYBA4, LSS, CRYBA1, CRYGB, CRYGC, NHS |
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 |
---|---|---|
transporter activity | GO:0005215 | 2.57 |
transmembrane transporter activity | GO:0022857 | 2.82 |
channel activity | GO:0015267 | 3.6 |
wide pore channel activity | GO:0022829 | 6.6 |
passive transmembrane transporter activity | GO:0022803 | 3.6 |
gap junction channel activity | GO:0005243 | 7.1 |