| Disease ID | Disease name | Source of annotation with MYH11 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 154700 | MARFAN SYNDROME | ClinVar | link to OMIM | 8 | NOTCH1, LTBP2, FBN2, FBN1, COL5A1, COL5A2, MYH11, COL3A1 |
| PS607086 | AORTIC ANEURYSM, FAMILIAL THORACIC | ClinVar, OMIM, HUMSAVAR | link to OMIM | 7 | TGFBR2, ACTA2, TGFBR1, MYH11, MYLK, PRKG1, MFAP5 |
| 155310 | VISCERAL MYOPATHY | ClinVar | link to OMIM | 2 | MYH11, ACTG2 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Tight junction | hsa04530 | 5.53 |
| Vascular smooth muscle contraction | hsa04270 | 5.74 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| RHO GTPases activate CIT | R-HSA-5625900 | 8.98 |
| RHO GTPases activate PKNs | R-HSA-5625740 | 7.1 |
| Sema4D induced cell migration and growth-cone collapse | R-HSA-416572 | 8.4 |
| Sema4D in semaphorin signaling | R-HSA-400685 | 8.23 |
| Muscle contraction | R-HSA-397014 | 6.96 |
| RHO GTPases Activate ROCKs | R-HSA-5627117 | 8.89 |
| EPHA-mediated growth cone collapse | R-HSA-3928663 | 7.89 |
| Signaling by Rho GTPases | R-HSA-194315 | 4.43 |
| RHO GTPase Effectors | R-HSA-195258 | 4.94 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| Semaphorin interactions | R-HSA-373755 | 6.92 |
| Axon guidance | R-HSA-422475 | 3.93 |
| EPH-Ephrin signaling | R-HSA-2682334 | 6.43 |
| Smooth Muscle Contraction | R-HSA-445355 | 8.23 |
| Developmental Biology | R-HSA-1266738 | 3.48 |
| RHO GTPases activate PAKs | R-HSA-5627123 | 8.59 |
| GO term | GO ID | GO IC |
|---|---|---|
| purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| binding | GO:0005488 | 0.18 |
| structural molecule activity | GO:0005198 | 3.1 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| purine nucleoside binding | GO:0001883 | 2.22 |
| nucleoside binding | GO:0001882 | 2.21 |
| nucleotide binding | GO:0000166 | 1.96 |
| actin binding | GO:0003779 | 3.74 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| ribonucleoside binding | GO:0032549 | 2.22 |
| protein complex binding | GO:0032403 | 3.09 |
| purine nucleotide binding | GO:0017076 | 2.19 |
| motor activity | GO:0003774 | 4.81 |
| ATP binding | GO:0005524 | 2.43 |
| hydrolase activity | GO:0016787 | 1.9 |
| nucleoside-triphosphatase activity | GO:0017111 | 3.09 |
| actin filament binding | GO:0051015 | 4.93 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| structural constituent of muscle | GO:0008307 | 6.02 |
| 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 |
| calmodulin binding | GO:0005516 | 4.55 |
| 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 |