Disease ID | Disease name | Source of annotation with EPS8 | 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
GO term | GO ID | GO IC |
---|---|---|
SH3/SH2 adaptor activity | GO:0005070 | 5.79 |
protein binding, bridging | GO:0030674 | 4.68 |
protein binding | GO:0005515 | 0.46 |
cytoskeletal protein binding | GO:0008092 | 3.02 |
GTPase binding | GO:0051020 | 4.05 |
enzyme binding | GO:0019899 | 2.27 |
Ras GTPase binding | GO:0017016 | 4.2 |
actin binding | GO:0003779 | 3.74 |
signaling adaptor activity | GO:0035591 | 5.43 |
Rac GTPase binding | GO:0048365 | 6.05 |
small GTPase binding | GO:0031267 | 4.13 |
binding | GO:0005488 | 0.18 |
Rho GTPase binding | GO:0017048 | 5.36 |
binding, bridging | GO:0060090 | 4.57 |