Disease ID | Disease name | Source of annotation with NBAS | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
614800 | SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | NBAS |
PS615438 | INFANTILE LIVER FAILURE SYNDROME | OMIM, HUMSAVAR | link to OMIM | 2 | LARS, NBAS |
Download the gene annotation in CSV format
GO term | GO ID | GO IC |
---|---|---|
SNARE binding | GO:0000149 | 4.87 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |