Disease ID | Disease name | Source of annotation with VSX2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS251600 | MICROPHTHALMIA, ISOLATED | ClinVar, OMIM, HUMSAVAR | link to OMIM | 7 | MFRP, ALDH1A3, RAX, GDF3, GDF6, VSX2, PRSS56 |
PS300345 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 8 | TENM3, RBP4, GDF6, SHH, STRA6, GDF3, ABCB6, VSX2 |
Download the gene annotation in CSV format
GO term | GO ID | GO IC |
---|---|---|
sequence-specific DNA binding | GO:0043565 | 2.79 |
organic cyclic compound binding | GO:0097159 | 1.05 |
binding | GO:0005488 | 0.18 |
nucleic acid binding | GO:0003676 | 1.44 |
DNA binding | GO:0003677 | 1.92 |
heterocyclic compound binding | GO:1901363 | 1.06 |