Disease ID | Disease name | Source of annotation with ESPN | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS220290 | DEAFNESS, AUTOSOMAL RECESSIVE | 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
GO term | GO ID | GO IC |
---|---|---|
cytoskeletal protein binding | GO:0008092 | 3.02 |
SH3 domain binding | GO:0017124 | 4.98 |
actin filament binding | GO:0051015 | 4.93 |
actin binding | GO:0003779 | 3.74 |
macromolecular complex binding | GO:0044877 | 2.61 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
protein complex binding | GO:0032403 | 3.09 |
protein domain specific binding | GO:0019904 | 3.32 |