| Disease ID | Disease name | Source of annotation with GJA1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS241550 | HYPOPLASTIC LEFT HEART SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | FOXP1, GJA1, NKX2-5 |
| 133200 | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | GJA1, GJB4, GJB3 |
| PS606215 | ATRIOVENTRICULAR SEPTAL DEFECT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 5 | FOXP1, GATA6, GJA1, CRELD1, GATA4 |
| 218400 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | GJA1 |
| 257850 | OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE | ClinVar, OMIM | link to OMIM | 1 | GJA1 |
| 104100 | PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | GJA1 |
| 186100 | SYNDACTYLY, TYPE III | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | GJA1 |
| 164200 | OCULODENTODIGITAL DYSPLASIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | GJA1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Arrhythmogenic right ventricular cardiomyopathy (ARVC) | hsa05412 | 6.32 |
| Gap junction | hsa04540 | 6.24 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Transport of connexins along the secretory pathway | R-HSA-190827 | 11.4 |
| c-src mediated regulation of Cx43 function and closure of gap junctions | R-HSA-191647 | 11.4 |
| Oligomerization of connexins into connexons | R-HSA-190704 | 11.4 |
| Gap junction degradation | R-HSA-190873 | 9.4 |
| Membrane Trafficking | R-HSA-199991 | 5.26 |
| Regulation of gap junction activity | R-HSA-191650 | 11.4 |
| Transport of connexons to the plasma membrane | R-HSA-190872 | 9.18 |
| Formation of annular gap junctions | R-HSA-196025 | 9.52 |
| Gap junction trafficking and regulation | R-HSA-157858 | 7.52 |
| Gap junction assembly | R-HSA-190861 | 8.03 |
| Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane | R-HSA-190840 | 9.28 |
| Gap junction trafficking | R-HSA-190828 | 7.59 |
| Vesicle-mediated transport | R-HSA-5653656 | 4.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| SH3 domain binding | GO:0017124 | 4.98 |
| beta-tubulin binding | GO:0048487 | 6.13 |
| binding | GO:0005488 | 0.18 |
| signal transducer activity | GO:0004871 | 2.28 |
| wide pore channel activity | GO:0022829 | 6.6 |
| passive transmembrane transporter activity | GO:0022803 | 3.6 |
| connexin binding | GO:0071253 | 8.13 |
| tubulin binding | GO:0015631 | 4.1 |
| transporter activity | GO:0005215 | 2.57 |
| gap junction channel activity involved in cell communication by electrical coupling | GO:1903763 | 9.05 |
| PDZ domain binding | GO:0030165 | 5.22 |
| protein domain specific binding | GO:0019904 | 3.32 |
| gap junction channel activity involved in cardiac conduction electrical coupling | GO:0086075 | 9.05 |
| substrate-specific transmembrane transporter activity | GO:0022891 | 2.9 |
| substrate-specific transporter activity | GO:0022892 | 2.72 |
| cytoskeletal protein binding | GO:0008092 | 3.02 |
| ion transmembrane transporter activity | GO:0015075 | 3.04 |
| transmembrane transporter activity | GO:0022857 | 2.82 |
| channel activity | GO:0015267 | 3.6 |
| scaffold protein binding | GO:0097110 | 5.93 |
| protein binding | GO:0005515 | 0.46 |
| receptor binding | GO:0005102 | 2.43 |
| gap junction channel activity | GO:0005243 | 7.1 |