Disease ID | Disease name | Source of annotation with MYPN | 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 |
PS115210 | FAMILIAL RESTRICTIVE CARDIOMYOPATHY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | TNNI3, MYPN, TNNT2 |
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 |
---|---|---|
alpha-actinin binding | GO:0051393 | 6.6 |
cytoskeletal protein binding | GO:0008092 | 3.02 |
muscle alpha-actinin binding | GO:0051371 | 7.54 |
SH3 domain binding | GO:0017124 | 4.98 |
actin binding | GO:0003779 | 3.74 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
actinin binding | GO:0042805 | 6.3 |
protein domain specific binding | GO:0019904 | 3.32 |