Disease ID | Disease name | Source of annotation with EDARADD | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS305100 | ECTODERMAL DYSPLASIA (SELECT EXAMPLES) | ClinVar, OMIM, HUMSAVAR | link to OMIM | 8 | EDAR, GJB6, KRT74, KRT85, EDARADD, MSX1, EDA, HOXC13 |
Download the gene annotation in CSV format
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Cytokine Signaling in Immune system | R-HSA-1280215 | 3.74 |
TNFs bind their physiological receptors | R-HSA-5669034 | 8.34 |
TNFR2 non-canonical NF-kB pathway | R-HSA-5668541 | 6.4 |
Immune System | R-HSA-168256 | 2.37 |
GO term | GO ID | GO IC |
---|---|---|
cation binding | GO:0043169 | 1.4 |
carbon-oxygen lyase activity | GO:0016835 | 5.46 |
hydro-lyase activity | GO:0016836 | 5.81 |
magnesium ion binding | GO:0000287 | 4.41 |
ion binding | GO:0043167 | 1.36 |
lyase activity | GO:0016829 | 4.53 |
catalytic activity | GO:0003824 | 1.05 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
metal ion binding | GO:0046872 | 1.41 |
phosphopyruvate hydratase activity | GO:0004634 | 7.95 |