| Disease ID | Disease name | Source of annotation with CLDN14 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS220290 | DEAFNESS, AUTOSOMAL RECESSIVE | ClinVar, OMIM, HUMSAVAR | 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 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Tight junction | hsa04530 | 5.53 |
| Cell adhesion molecules (CAMs) | hsa04514 | 5.36 |
| Leukocyte transendothelial migration | hsa04670 | 5.74 |
| Hepatitis C | hsa05160 | 5.68 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Cell-Cell communication | R-HSA-1500931 | 5.87 |
| Cell-cell junction organization | R-HSA-421270 | 7.03 |
| Tight junction interactions | R-HSA-420029 | 8.08 |
| Cell junction organization | R-HSA-446728 | 6.51 |
| GO term | GO ID | GO IC |
|---|---|---|
| identical protein binding | GO:0042802 | 2.63 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| structural molecule activity | GO:0005198 | 3.1 |