Disease ID | Disease name | Source of annotation with SGCA | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS253600 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE | ClinVar, OMIM, HUMSAVAR | 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 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Hypertrophic cardiomyopathy (HCM) | hsa05410 | 6.21 |
Arrhythmogenic right ventricular cardiomyopathy (ARVC) | hsa05412 | 6.32 |
Dilated cardiomyopathy | hsa05414 | 6.08 |
Viral myocarditis | hsa05416 | 6.45 |
GO term | GO ID | GO IC |
---|---|---|
cation binding | GO:0043169 | 1.4 |
ion binding | GO:0043167 | 1.36 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
metal ion binding | GO:0046872 | 1.41 |
calcium ion binding | GO:0005509 | 3.17 |