Disease ID | Disease name | Source of annotation with SMN1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
253550 | SPINAL MUSCULAR ATROPHY, TYPE II | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | SMN1 |
253300 | SPINAL MUSCULAR ATROPHY, TYPE I | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | IGHMBP2, SMN1 |
253400 | SPINAL MUSCULAR ATROPHY, TYPE III | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | SMN2, SMN1 |
271150 | SPINAL MUSCULAR ATROPHY, TYPE IV | OMIM | link to OMIM | 1 | SMN1 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
RNA transport | hsa03013 | 5.37 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
snRNP Assembly | R-HSA-191859 | 8.52 |
Gene Expression | R-HSA-74160 | 2.72 |
Metabolism of non-coding RNA | R-HSA-194441 | 8.52 |
GO term | GO ID | GO IC |
---|---|---|
nucleic acid binding | GO:0003676 | 1.44 |
organic cyclic compound binding | GO:0097159 | 1.05 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
heterocyclic compound binding | GO:1901363 | 1.06 |
identical protein binding | GO:0042802 | 2.63 |
RNA binding | GO:0003723 | 2.36 |