Disease ID | Disease name | Source of annotation with GJB1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS118220 | CHARCOT-MARIE-TOOTH DISEASE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 48 | KARS, FIG4, PRPS1, FGD4, MPZ, KIF1B, RAB7A, LMNA, VCP, GDAP1, AIFM1, MORC2, SH3TC2, TRIM2, JPH1, PLEKHG5, DNM2, NAGLU, MTMR2, HARS, HSPB8, HSPB1, PMP22, MED25, SPG11, SBF1, DYNC1H1, SURF1, NEFH, NDRG1, MARS, SBF2, IGHMBP2, NEFL, EGR2, AARS, COX6A1, PDK3, DHTKD1, HK1, GJB1, LRSAM1, PRX, TRPV4, LITAF, MFN2, YARS, GARS |
Download the gene annotation in CSV format
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Transport of connexins along the secretory pathway | R-HSA-190827 | 11.4 |
Gap junction trafficking | R-HSA-190828 | 7.59 |
Gap junction assembly | R-HSA-190861 | 8.03 |
Membrane Trafficking | R-HSA-199991 | 5.26 |
Gap junction trafficking and regulation | R-HSA-157858 | 7.52 |
Oligomerization of connexins into connexons | R-HSA-190704 | 11.4 |
Vesicle-mediated transport | R-HSA-5653656 | 4.33 |
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 |
protein binding | GO:0005515 | 0.46 |
passive transmembrane transporter activity | GO:0022803 | 3.6 |
protein dimerization activity | GO:0046983 | 2.72 |
protein homodimerization activity | GO:0042803 | 3.16 |
gap junction channel activity | GO:0005243 | 7.1 |
identical protein binding | GO:0042802 | 2.63 |
binding | GO:0005488 | 0.18 |