Disease ID | Disease name | Source of annotation with CSRP3 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS115200 | DILATED CARDIOMYOPATHY | ClinVar, OMIM, HUMSAVAR | 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 |
PS192600 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC | ClinVar, OMIM, HUMSAVAR | link to OMIM | 25 | CALR3, JPH2, VCL, TNNC1, LDB3, ACTC1, CSRP3, MYLK2, TTN, MYH7, NEXN, MYOZ2, TCAP, ACTN2, TNNT2, MYL2, MYBPC3, PLN, MYH6, TPM1, TNNI3, MYL3, PRKAG2, MYPN, CAV3 |
Download the gene annotation in CSV format
GO term | GO ID | GO IC |
---|---|---|
telethonin binding | GO:0031433 | 8.13 |
cation binding | GO:0043169 | 1.4 |
metal ion binding | GO:0046872 | 1.41 |
transition metal ion binding | GO:0046914 | 2.48 |
cytoskeletal protein binding | GO:0008092 | 3.02 |
ion binding | GO:0043167 | 1.36 |
structural constituent of muscle | GO:0008307 | 6.02 |
zinc ion binding | GO:0008270 | 2.66 |
protein binding | GO:0005515 | 0.46 |
actinin binding | GO:0042805 | 6.3 |
structural molecule activity | GO:0005198 | 3.1 |
binding | GO:0005488 | 0.18 |