Disease ID | Disease name | Source of annotation with SIPA1L3 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS116200 | CATARACT | ClinVar, OMIM | link to OMIM | 33 | GCNT2, CRYGD, VIM, CRYBB2, PITX3, UNC45B, BFSP1, GJA8, MAF, AGK, EPHA2, CRYBB3, MIP, CRYBA2, CRYGS, CRYBB1, FYCO1, SIPA1L3, CRYAB, GJA3, BFSP2, TDRD7, HSF4, CHMP4B, CRYAA, LIM2, WFS1, CRYBA4, LSS, CRYBA1, CRYGB, CRYGC, NHS |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Rap1 signaling pathway | hsa04015 | 4.97 |
GO term | GO ID | GO IC |
---|---|---|
enzyme regulator activity | GO:0030234 | 2.85 |
GTPase activator activity | GO:0005096 | 4.11 |
GTPase regulator activity | GO:0030695 | 4.01 |
enzyme activator activity | GO:0008047 | 3.56 |
molecular function regulator | GO:0098772 | 2.51 |
nucleoside-triphosphatase regulator activity | GO:0060589 | 3.92 |