Disease ID | Disease name | Source of annotation with CHMP2B | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
600795 | FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | CHMP2B |
PS105400 | AMYOTROPHIC LATERAL SCLEROSIS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 27 | CHCHD10, FIG4, ERBB4, SQSTM1, ATXN2, UBQLN2, DCTN1, FUS, NEFH, PFN1, VAPB, MATR3, ALS2, TBK1, SPG11, TARDBP, TUBA4A, SIGMAR1, SOD1, CHMP2B, PRPH, ANG, VCP, OPTN, C9orf72, HNRNPA1, SETX |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Endocytosis | hsa04144 | 4.92 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Macroautophagy | R-HSA-1632852 | 6.92 |
Infectious disease | R-HSA-5663205 | 4.47 |
Cellular responses to stress | R-HSA-2262752 | 4.56 |
HIV Infection | R-HSA-162906 | 5.22 |
Membrane Trafficking | R-HSA-199991 | 5.26 |
Budding and maturation of HIV virion | R-HSA-162588 | 8.34 |
Late Phase of HIV Life Cycle | R-HSA-162599 | 6.02 |
Endosomal Sorting Complex Required For Transport (ESCRT) | R-HSA-917729 | 8.18 |
HIV Life Cycle | R-HSA-162587 | 5.89 |
Disease | R-HSA-1643685 | 3.33 |
Vesicle-mediated transport | R-HSA-5653656 | 4.33 |
GO term | GO ID | GO IC |
---|---|---|
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
protein domain specific binding | GO:0019904 | 3.32 |