Disease ID | Disease name | Source of annotation with ARFGEF2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
608097 | PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | ARFGEF2 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Endocytosis | hsa04144 | 4.92 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Association of TriC/CCT with target proteins during biosynthesis | R-HSA-390471 | 8.12 |
Metabolism of proteins | R-HSA-392499 | 3.41 |
Protein folding | R-HSA-391251 | 7.23 |
Chaperonin-mediated protein folding | R-HSA-390466 | 7.4 |
GO term | GO ID | GO IC |
---|---|---|
GO:0050811 | 7.03 | |
protein kinase A binding | GO:0051018 | 6.02 |
cytoskeletal protein binding | GO:0008092 | 3.02 |
guanyl-nucleotide exchange factor activity | GO:0005085 | 4.02 |
myosin binding | GO:0017022 | 5.66 |
ARF guanyl-nucleotide exchange factor activity | GO:0005086 | 6.52 |
protein kinase A regulatory subunit binding | GO:0034237 | 6.97 |
protein binding | GO:0005515 | 0.46 |
receptor binding | GO:0005102 | 2.43 |
molecular function regulator | GO:0098772 | 2.51 |
binding | GO:0005488 | 0.18 |