Disease ID | Disease name | Source of annotation with LRSAM1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS118220 | CHARCOT-MARIE-TOOTH DISEASE | ClinVar, OMIM | link to OMIM | 48 | KARS, FIG4, PRPS1, FGD4, MPZ, KIF1B, RAB7A, LMNA, VCP, GDAP1, AIFM1, MORC2, SH3TC2, TRIM2, JPH1, PLEKHG5, DNM2, NAGLU, MTMR2, HARS, HSPB8, HSPB1, PMP22, MED25, SPG11, SBF1, DYNC1H1, SURF1, NEFH, NDRG1, MARS, SBF2, IGHMBP2, NEFL, EGR2, AARS, COX6A1, PDK3, DHTKD1, HK1, GJB1, LRSAM1, PRX, TRPV4, LITAF, MFN2, YARS, GARS |
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REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Class I MHC mediated antigen processing & presentation | R-HSA-983169 | 4.65 |
Antigen processing: Ubiquitination & Proteasome degradation | R-HSA-983168 | 5.19 |
Immune System | R-HSA-168256 | 2.37 |
Adaptive Immune System | R-HSA-1280218 | 3.19 |
GO term | GO ID | GO IC |
---|---|---|
ubiquitin-like protein transferase activity | GO:0019787 | 3.69 |
cation binding | GO:0043169 | 1.4 |
transition metal ion binding | GO:0046914 | 2.48 |
ubiquitin-protein transferase activity | GO:0004842 | 3.73 |
ubiquitin protein ligase activity | GO:0061630 | 4.47 |
ion binding | GO:0043167 | 1.36 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
ubiquitin-like protein ligase activity | GO:0061659 | 4.44 |
metal ion binding | GO:0046872 | 1.41 |
ligase activity | GO:0016874 | 3.72 |
zinc ion binding | GO:0008270 | 2.66 |