Disease ID | Disease name | Source of annotation with PLN | 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 | 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
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
cGMP-PKG signaling pathway | hsa04022 | 5.32 |
Calcium signaling pathway | hsa04020 | 5.22 |
cAMP signaling pathway | hsa04024 | 5.05 |
Thyroid hormone signaling pathway | hsa04919 | 5.82 |
Dilated cardiomyopathy | hsa05414 | 6.08 |
Adrenergic signaling in cardiomyocytes | hsa04261 | 5.44 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Ion channel transport | R-HSA-983712 | 5.34 |
Ion transport by P-type ATPases | R-HSA-936837 | 7.46 |
Transmembrane transport of small molecules | R-HSA-382551 | 3.79 |
GO term | GO ID | GO IC |
---|---|---|
protein binding | GO:0005515 | 0.46 |
ATPase binding | GO:0051117 | 5.41 |
enzyme regulator activity | GO:0030234 | 2.85 |
enzyme binding | GO:0019899 | 2.27 |
ATPase inhibitor activity | GO:0042030 | 9.05 |
binding | GO:0005488 | 0.18 |
ATPase regulator activity | GO:0060590 | 6.34 |
channel regulator activity | GO:0016247 | 4.88 |
calcium channel regulator activity | GO:0005246 | 6.15 |
enzyme inhibitor activity | GO:0004857 | 3.78 |
molecular function regulator | GO:0098772 | 2.51 |
nucleoside-triphosphatase regulator activity | GO:0060589 | 3.92 |
identical protein binding | GO:0042802 | 2.63 |