Disease ID | Disease name | Source of annotation with TMEM43 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS107970 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 9 | TGFB3, DSP, TMEM43, DSC2, PKP2, CTNNA3, RYR2, DSG2, JUP |
PS310300 | EMERY-DREIFUSS MUSCULAR DYSTROPHY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 6 | SYNE1, FHL1, TMEM43, EMD, SYNE2, LMNA |
Download the gene annotation in CSV format
GO term | GO ID | GO IC |
---|---|---|
protein self-association | GO:0043621 | 5.93 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |