Disease ID | Disease name | Source of annotation with ACTC1 | 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 |
PS108800 | ATRIAL SEPTAL DEFECT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 8 | GATA4, TBX20, NKX2-5, CITED2, GATA6, ACTC1, MYH6, TLL1 |
PS604169 | LEFT VENTRICULAR NONCOMPACTION | ClinVar, OMIM, HUMSAVAR | link to OMIM | 9 | TPM1, PRDM16, LDB3, MYH7, TNNT2, MYBPC3, ACTC1, DTNA, MIB1 |
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
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Hypertrophic cardiomyopathy (HCM) | hsa05410 | 6.21 |
Dilated cardiomyopathy | hsa05414 | 6.08 |
Cardiac muscle contraction | hsa04260 | 6.34 |
Adrenergic signaling in cardiomyocytes | hsa04261 | 5.44 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Muscle contraction | R-HSA-397014 | 6.96 |
Striated Muscle Contraction | R-HSA-390522 | 7.81 |
GO term | GO ID | GO IC |
---|---|---|
purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
myosin binding | GO:0017022 | 5.66 |
binding | GO:0005488 | 0.18 |
ATPase activity | GO:0016887 | 3.65 |
heterocyclic compound binding | GO:1901363 | 1.06 |
nucleoside phosphate binding | GO:1901265 | 1.96 |
nucleoside binding | GO:0001882 | 2.21 |
nucleotide binding | GO:0000166 | 1.96 |
purine nucleoside binding | GO:0001883 | 2.22 |
ribonucleoside binding | GO:0032549 | 2.22 |
purine nucleotide binding | GO:0017076 | 2.19 |
ATP binding | GO:0005524 | 2.43 |
hydrolase activity | GO:0016787 | 1.9 |
nucleoside-triphosphatase activity | GO:0017111 | 3.09 |
small molecule binding | GO:0036094 | 1.89 |
catalytic activity | GO:0003824 | 1.05 |
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides | GO:0016818 | 3.03 |
adenyl nucleotide binding | GO:0030554 | 2.4 |
carbohydrate derivative binding | GO:0097367 | 2.03 |
organic cyclic compound binding | GO:0097159 | 1.05 |
cytoskeletal protein binding | GO:0008092 | 3.02 |
hydrolase activity, acting on acid anhydrides | GO:0016817 | 3.03 |
pyrophosphatase activity | GO:0016462 | 3.04 |
adenyl ribonucleotide binding | GO:0032559 | 2.41 |
protein binding | GO:0005515 | 0.46 |
purine ribonucleotide binding | GO:0032555 | 2.2 |
purine ribonucleoside binding | GO:0032550 | 2.22 |
ribonucleotide binding | GO:0032553 | 2.19 |