Disease ID | Disease name | Source of annotation with RPGRIP1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
608194 | CONE-ROD DYSTROPHY 13 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | RPGRIP1 |
PS204000 | LEBER CONGENITAL AMAUROSIS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 19 | TULP1, PRPH2, LRAT, SPATA7, CEP290, RDH12, RPE65, CRX, GDF6, GUCY2D, ROM1, IMPDH1, KCNJ13, RD3, NMNAT1, LCA5, RPGRIP1, CRB1, AIPL1 |
Download the gene annotation in CSV format
GO term | GO ID | GO IC |
---|---|---|
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |