Disease ID | Disease name | Source of annotation with LIMS2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS253600 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE | ClinVar, 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 |
Download the gene annotation in CSV format
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Cell-Cell communication | R-HSA-1500931 | 5.87 |
Cell junction organization | R-HSA-446728 | 6.51 |
Cell-extracellular matrix interactions | R-HSA-446353 | 8.81 |
GO term | GO ID | GO IC |
---|---|---|
cation binding | GO:0043169 | 1.4 |
transition metal ion binding | GO:0046914 | 2.48 |
ion binding | GO:0043167 | 1.36 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
metal ion binding | GO:0046872 | 1.41 |
zinc ion binding | GO:0008270 | 2.66 |