Disease ID | Disease name | Source of annotation with EDAR | 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 |
612630 | HAIR MORPHOLOGY 1 | OMIM | link to OMIM | 1 | EDAR |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Cytokine-cytokine receptor interaction | hsa04060 | 4.67 |
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 |
---|---|---|
signaling receptor activity | GO:0038023 | 2.49 |
protein binding | GO:0005515 | 0.46 |
molecular transducer activity | GO:0060089 | 2.32 |
transmembrane signaling receptor activity | GO:0004888 | 2.57 |
receptor activity | GO:0004872 | 2.32 |
signal transducer activity | GO:0004871 | 2.28 |
transmembrane receptor activity | GO:0099600 | 2.53 |
binding | GO:0005488 | 0.18 |