Disease ID | Disease name | Source of annotation with TCAP | 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 |
PS192600 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC | ClinVar, OMIM, HUMSAVAR | link to OMIM | 25 | CALR3, JPH2, VCL, TNNC1, LDB3, ACTC1, CSRP3, MYLK2, TTN, MYH7, NEXN, MYOZ2, TCAP, ACTN2, TNNT2, MYL2, MYBPC3, PLN, MYH6, TPM1, TNNI3, MYL3, PRKAG2, MYPN, CAV3 |
Download the gene annotation in CSV format
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Muscle contraction | R-HSA-397014 | 6.96 |
Striated Muscle Contraction | R-HSA-390522 | 7.81 |
GO term | GO ID | GO IC |
---|---|---|
titin binding | GO:0031432 | 7.25 |
protein binding, bridging | GO:0030674 | 4.68 |
cytoskeletal protein binding | GO:0008092 | 3.02 |
titin Z domain binding | GO:0070080 | 9.05 |
cytokine binding | GO:0019955 | 5.21 |
BMP binding | GO:0036122 | 7.54 |
structural molecule activity | GO:0005198 | 3.1 |
structural constituent of muscle | GO:0008307 | 6.02 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
FATZ binding | GO:0051373 | 8.64 |
ion channel binding | GO:0044325 | 5.02 |
protein domain specific binding | GO:0019904 | 3.32 |
binding, bridging | GO:0060090 | 4.57 |