| Disease ID | Disease name | Source of annotation with PLEC | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 616487 | EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY | ClinVar, OMIM | link to OMIM | 1 | PLEC |
| 226670 | EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY | ClinVar, OMIM | link to OMIM | 1 | PLEC |
| PS253600 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE | OMIM | link to OMIM | 24 | SGCA, TCAP, SGCB, ISPD, BVES, POMK, POMT2, TRAPPC11, SGCD, TTN, FKTN, POMT1, TRIM32, LIMS2, ANO5, CAPN3, DYSF, FKRP, POMGNT1, SGCG, DAG1, GMPPB, DES, PLEC |
| 131950 | EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | PLEC |
| 612138 | EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA | ClinVar, OMIM | link to OMIM | 1 | PLEC |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Apoptotic execution phase | R-HSA-75153 | 7.28 |
| Caspase-mediated cleavage of cytoskeletal proteins | R-HSA-264870 | 9.4 |
| Apoptotic cleavage of cellular proteins | R-HSA-111465 | 7.73 |
| Cell junction organization | R-HSA-446728 | 6.51 |
| Cell-Cell communication | R-HSA-1500931 | 5.87 |
| Programmed Cell Death | R-HSA-5357801 | 5.65 |
| Extracellular matrix organization | R-HSA-1474244 | 4.91 |
| Collagen formation | R-HSA-1474290 | 6.56 |
| Type I hemidesmosome assembly | R-HSA-446107 | 9.52 |
| Assembly of collagen fibrils and other multimeric structures | R-HSA-2022090 | 7.2 |
| Apoptosis | R-HSA-109581 | 5.68 |
| GO term | GO ID | GO IC |
|---|---|---|
| nucleic acid binding | GO:0003676 | 1.44 |
| cytoskeletal protein binding | GO:0008092 | 3.02 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| poly(A) RNA binding | GO:0044822 | 2.69 |
| structural molecule activity | GO:0005198 | 3.1 |
| actin binding | GO:0003779 | 3.74 |
| structural constituent of muscle | GO:0008307 | 6.02 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| ankyrin binding | GO:0030506 | 6.74 |
| RNA binding | GO:0003723 | 2.36 |