Disease ID | Disease name | Source of annotation with EYA4 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS115200 | DILATED CARDIOMYOPATHY | ClinVar, OMIM | link to OMIM | 36 | MYBPC3, VCL, PSEN2, PLN, LDB3, ACTC1, BAG3, RBM20, CSRP3, RAF1, MYH7, SGCD, TTN, FKTN, CRYAB, NEXN, SDHA, ABCC9, DSG2, ACTN2, TNNT2, GATAD1, EYA4, TNNC1, LAMA4, SCN5A, MYH6, DMD, TPM1, TNNI3, PRDM16, DES, LMNA, TMPO, MYPN, PSEN1 |
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
GO term | GO ID | GO IC |
---|---|---|
hydrolase activity | GO:0016787 | 1.9 |
phosphatase activity | GO:0016791 | 4.11 |
cation binding | GO:0043169 | 1.4 |
protein tyrosine phosphatase activity | GO:0004725 | 5.09 |
hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
ion binding | GO:0043167 | 1.36 |
phosphoric ester hydrolase activity | GO:0042578 | 3.82 |
catalytic activity | GO:0003824 | 1.05 |
phosphoprotein phosphatase activity | GO:0004721 | 4.55 |
protein binding | GO:0005515 | 0.46 |
metal ion binding | GO:0046872 | 1.41 |
binding | GO:0005488 | 0.18 |