Disease ID | Disease name | Source of annotation with LSS | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS116200 | CATARACT | ClinVar, OMIM, HUMSAVAR | 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 |
---|---|---|
Steroid biosynthesis | hsa00100 | 8.45 |
Metabolic pathways | hsa01100 | 2.49 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
Regulation of cholesterol biosynthesis by SREBP (SREBF) | R-HSA-1655829 | 7.23 |
Cholesterol biosynthesis | R-HSA-191273 | 8.46 |
Metabolism | R-HSA-1430728 | 2.34 |
Activation of gene expression by SREBF (SREBP) | R-HSA-2426168 | 7.62 |
GO term | GO ID | GO IC |
---|---|---|
intramolecular transferase activity | GO:0016866 | 6.44 |
catalytic activity | GO:0003824 | 1.05 |
oxidosqualene cyclase activity | GO:0031559 | 9.74 |
isomerase activity | GO:0016853 | 4.62 |
lanosterol synthase activity | GO:0000250 | 9.74 |