Disease ID | Disease name | Source of annotation with DAG1 | 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 |
PS236670 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE A | ClinVar, OMIM, HUMSAVAR | link to OMIM | 14 | GMPPB, POMT2, LARGE1, FKRP, FKTN, TMEM5, B4GAT1, POMT1, B3GALNT2, POMGNT2, ISPD, DAG1, POMGNT1, POMK |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Hypertrophic cardiomyopathy (HCM) | hsa05410 | 6.21 |
Dilated cardiomyopathy | hsa05414 | 6.08 |
Arrhythmogenic right ventricular cardiomyopathy (ARVC) | hsa05412 | 6.32 |
ECM-receptor interaction | hsa04512 | 6.09 |
Viral myocarditis | hsa05416 | 6.45 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
ECM proteoglycans | R-HSA-3000178 | 6.75 |
Non-integrin membrane-ECM interactions | R-HSA-3000171 | 7.1 |
Extracellular matrix organization | R-HSA-1474244 | 4.91 |
Integrin cell surface interactions | R-HSA-216083 | 6.57 |
GO term | GO ID | GO IC |
---|---|---|
vinculin binding | GO:0017166 | 7.34 |
extracellular matrix binding | GO:0050840 | 5.79 |
SH2 domain binding | GO:0042169 | 6.34 |
molecular transducer activity | GO:0060089 | 2.32 |
macromolecular complex binding | GO:0044877 | 2.61 |
dystroglycan binding | GO:0002162 | 7.54 |
structural molecule activity | GO:0005198 | 3.1 |
glycoprotein binding | GO:0001948 | 5.11 |
cation binding | GO:0043169 | 1.4 |
ion binding | GO:0043167 | 1.36 |
actin binding | GO:0003779 | 3.74 |
calcium ion binding | GO:0005509 | 3.17 |
receptor activity | GO:0004872 | 2.32 |
actinin binding | GO:0042805 | 6.3 |
metal ion binding | GO:0046872 | 1.41 |
tubulin binding | GO:0015631 | 4.1 |
alpha-actinin binding | GO:0051393 | 6.6 |
protein complex binding | GO:0032403 | 3.09 |
structural constituent of muscle | GO:0008307 | 6.02 |
protein domain specific binding | GO:0019904 | 3.32 |
laminin binding | GO:0043236 | 6.34 |
laminin-1 binding | GO:0043237 | 7.79 |
cytoskeletal protein binding | GO:0008092 | 3.02 |
carbohydrate derivative binding | GO:0097367 | 2.03 |
virus receptor activity | GO:0001618 | 5.49 |
protein binding | GO:0005515 | 0.46 |
binding | GO:0005488 | 0.18 |