Disease ID | Disease name | Source of annotation with STRA6 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS309800 | MICROPHTHALMIA, SYNDROMIC | ClinVar, OMIM, HUMSAVAR | link to OMIM | 11 | NAA10, BCOR, HCCS, MAB21L2, VAX1, RARB, STRA6, BMP4, HMGB3, OTX2, SOX2 |
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
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Diseases associated with visual transduction | R-HSA-2474795 | 9.28 |
Visual phototransduction | R-HSA-2187338 | 6.44 |
Diseases of signal transduction | R-HSA-5663202 | 4.89 |
Retinoid cycle disease events | R-HSA-2453864 | 9.28 |
Signal Transduction | R-HSA-162582 | 1.78 |
The canonical retinoid cycle in rods (twilight vision) | R-HSA-2453902 | 8.52 |
Disease | R-HSA-1643685 | 3.33 |
GO term | GO ID | GO IC |
---|---|---|
molecular transducer activity | GO:0060089 | 2.32 |
receptor activity | GO:0004872 | 2.32 |
vitamin transporter activity | GO:0051183 | 6.56 |
transporter activity | GO:0005215 | 2.57 |