Disease ID | Disease name | Source of annotation with GJB3 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
133200 | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | GJA1, GJB4, GJB3 |
PS220290 | DEAFNESS, AUTOSOMAL RECESSIVE | OMIM | link to OMIM | 60 | CLIC5, KARS, OTOGL, CABP2, HGF, DFNB59, GIPC3, EPS8, MYO3A, CDH23, OTOF, ELMOD3, ESRRB, RDX, GJB2, GJB3, ESPN, ADCY1, CIB2, STRC, TMIE, S1PR2, FAM65B, TSPEAR, TBC1D24, SLC26A4, OTOG, COL11A2, MARVELD2, PNPT1, MYO15A, WHRN, CLDN14, MYO7A, GJB6, MET, TPRN, DCDC2, LRTOMT, TMC1, MYO6, ILDR1, MSRB3, SERPINB6, SLC26A5, ATP2B2, LHFPL5, SYNE4, GRXCR2, FOXI1, GRXCR1, LOXHD1, TECTA, PCDH15, TRIOBP, USH1C, KCNJ10, PTPRQ, TMPRSS3, OTOA |
PS124900 | DEAFNESS, AUTOSOMAL DOMINANT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 33 | GJB2, DIAPH1, DFNA5, CEACAM16, CRYM, CCDC50, GJB3, KCNQ4, POU4F3, SLC17A8, MYO1A, TBC1D24, MYO7A, COL11A2, MIR96, GJB6, OSBPL2, TMC1, MYO6, P2RX2, EYA4, ACTG1, HOMER2, SIX1, WFS1, KITLG, DIABLO, COCH, TECTA, GRHL2, MYH14, TNC, MYH9 |
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 |