Disease ID | Disease name | Source of annotation with COL13A1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS601462 | MYASTHENIC SYNDROME, CONGENITAL | OMIM | 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 |
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KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Protein digestion and absorption | hsa04974 | 6.2 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Integrin cell surface interactions | R-HSA-216083 | 6.57 |
Degradation of the extracellular matrix | R-HSA-1474228 | 6.11 |
Collagen degradation | R-HSA-1442490 | 7.03 |
Extracellular matrix organization | R-HSA-1474244 | 4.91 |
Collagen formation | R-HSA-1474290 | 6.56 |
Collagen biosynthesis and modifying enzymes | R-HSA-1650814 | 6.98 |
GO term | GO ID | GO IC |
---|---|---|
sulfur compound binding | GO:1901681 | 4.32 |
carbohydrate derivative binding | GO:0097367 | 2.03 |
glycosaminoglycan binding | GO:0005539 | 4.42 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
heparin binding | GO:0008201 | 4.68 |