Disease ID | Disease name | Source of annotation with AGRN | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS601462 | MYASTHENIC SYNDROME, CONGENITAL | ClinVar, OMIM, HUMSAVAR | link to OMIM | 23 | LRP4, CHRNE, DOK7, CHRNB1, CHAT, COX10, COLQ, COL13A1, DPAGT1, ALG14, MUSK, AGRN, SNAP25, SURF1, GFPT1, CHRNA1, RAPSN, CHRND, SCN4A, TACO1, SYT2, COX15, ALG2 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
ECM-receptor interaction | hsa04512 | 6.09 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Visual phototransduction | R-HSA-2187338 | 6.44 |
Diseases associated with glycosaminoglycan metabolism | R-HSA-3560782 | 7.77 |
Defective B4GALT7 causes EDS, progeroid type | R-HSA-3560783 | 8.66 |
Extracellular matrix organization | R-HSA-1474244 | 4.91 |
Metabolism | R-HSA-1430728 | 2.34 |
Diseases of glycosylation | R-HSA-3781865 | 6.89 |
Developmental Biology | R-HSA-1266738 | 3.48 |
Integrin cell surface interactions | R-HSA-216083 | 6.57 |
Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
Chondroitin sulfate/dermatan sulfate metabolism | R-HSA-1793185 | 7.34 |
ECM proteoglycans | R-HSA-3000178 | 6.75 |
NCAM1 interactions | R-HSA-419037 | 7.59 |
Disease | R-HSA-1643685 | 3.33 |
Glycosaminoglycan metabolism | R-HSA-1630316 | 6.04 |
HS-GAG degradation | R-HSA-2024096 | 8.52 |
Heparan sulfate/heparin (HS-GAG) metabolism | R-HSA-1638091 | 7.2 |
NCAM signaling for neurite out-growth | R-HSA-375165 | 4.9 |
HS-GAG biosynthesis | R-HSA-2022928 | 8.03 |
Non-integrin membrane-ECM interactions | R-HSA-3000171 | 7.1 |
Defective B3GAT3 causes JDSSDHD | R-HSA-3560801 | 8.66 |
Defective EXT2 causes exostoses 2 | R-HSA-3656237 | 9.28 |
Defective EXT1 causes exostoses 1, TRPS2 and CHDS | R-HSA-3656253 | 9.28 |
A tetrasaccharide linker sequence is required for GAG synthesis | R-HSA-1971475 | 8.28 |
Retinoid metabolism and transport | R-HSA-975634 | 7.59 |
Axon guidance | R-HSA-422475 | 3.93 |
Signal Transduction | R-HSA-162582 | 1.78 |
GO term | GO ID | GO IC |
---|---|---|
anion binding | GO:0043168 | 4.17 |
glycoprotein binding | GO:0001948 | 5.11 |
laminin binding | GO:0043236 | 6.34 |
structural constituent of cytoskeleton | GO:0005200 | 5.12 |
extracellular matrix binding | GO:0050840 | 5.79 |
carbohydrate derivative binding | GO:0097367 | 2.03 |
sialic acid binding | GO:0033691 | 7.66 |
carboxylic acid binding | GO:0031406 | 4.64 |
cation binding | GO:0043169 | 1.4 |
GO:0035374 | 8.64 | |
ion binding | GO:0043167 | 1.36 |
dystroglycan binding | GO:0002162 | 7.54 |
metal ion binding | GO:0046872 | 1.41 |
heparan sulfate proteoglycan binding | GO:0043395 | 6.85 |
proteoglycan binding | GO:0043394 | 6.34 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
sulfur compound binding | GO:1901681 | 4.32 |
structural molecule activity | GO:0005198 | 3.1 |
glycosaminoglycan binding | GO:0005539 | 4.42 |
calcium ion binding | GO:0005509 | 3.17 |