Disease ID | Disease name | Source of annotation with TBCE | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
241410 | HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME | ClinVar, OMIM | link to OMIM | 1 | TBCE |
PS127000 | KENNY-CAFFEY SYNDROME | OMIM | link to OMIM | 2 | FAM111A, TBCE |
Download the gene annotation in CSV format
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Protein folding | R-HSA-391251 | 7.23 |
Metabolism of proteins | R-HSA-392499 | 3.41 |
Post-chaperonin tubulin folding pathway | R-HSA-389977 | 8.81 |
GO term | GO ID | GO IC |
---|---|---|
chaperone binding | GO:0051087 | 5.34 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |