Disease ID | Disease name | Source of annotation with IL7R | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
608971 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE | ClinVar, OMIM | link to OMIM | 2 | IL7R, PTPRC |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
FoxO signaling pathway | hsa04068 | 5.63 |
Jak-STAT signaling pathway | hsa04630 | 5.44 |
Hematopoietic cell lineage | hsa04640 | 6.18 |
Primary immunodeficiency | hsa05340 | 7.52 |
Cytokine-cytokine receptor interaction | hsa04060 | 4.67 |
PI3K-Akt signaling pathway | hsa04151 | 4.21 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Cytokine Signaling in Immune system | R-HSA-1280215 | 3.74 |
Interleukin-7 signaling | R-HSA-1266695 | 9.52 |
Immune System | R-HSA-168256 | 2.37 |
Signaling by Interleukins | R-HSA-449147 | 4.71 |
GO term | GO ID | GO IC |
---|---|---|
interleukin-7 receptor activity | GO:0004917 | 9.05 |
signaling receptor activity | GO:0038023 | 2.49 |
signal transducer activity | GO:0004871 | 2.28 |
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 |
antigen binding | GO:0003823 | 5.02 |
cytokine receptor activity | GO:0004896 | 5.24 |
transmembrane receptor activity | GO:0099600 | 2.53 |
binding | GO:0005488 | 0.18 |