Disease ID | Disease name | Source of annotation with SERPINB6 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS220290 | DEAFNESS, AUTOSOMAL RECESSIVE | ClinVar, 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 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Amoebiasis | hsa05146 | 5.82 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Dissolution of Fibrin Clot | R-HSA-75205 | 9.28 |
Hemostasis | R-HSA-109582 | 3.98 |
GO term | GO ID | GO IC |
---|---|---|
peptidase inhibitor activity | GO:0030414 | 4.55 |
enzyme regulator activity | GO:0030234 | 2.85 |
peptidase regulator activity | GO:0061134 | 4.37 |
enzyme binding | GO:0019899 | 2.27 |
protease binding | GO:0002020 | 5.08 |
protein binding | GO:0005515 | 0.46 |
endopeptidase inhibitor activity | GO:0004866 | 4.6 |
serine-type endopeptidase inhibitor activity | GO:0004867 | 5.16 |
enzyme inhibitor activity | GO:0004857 | 3.78 |
molecular function regulator | GO:0098772 | 2.51 |
endopeptidase regulator activity | GO:0061135 | 4.57 |
binding | GO:0005488 | 0.18 |