Entity Details
Details
| PrimaryID | 54829 |
| RefseqGene | NG_023430 |
| Symbol | ASPN |
| Name | asporin |
| Chromosome | 9 |
| Location | 9q22.31 |
| TaxID | 9606 |
| Status | live |
| SourceGenome | genomic |
| SourceOrigin | natural |
| CreationDate | 2001-03-22 |
| ModificationDate | 2021-06-11 |
Diseases
Show/Hide Table
| Disease ID | Source | Name | Description |
| 603932 | OMIM | Intervertebral disc disease (IDD) | A common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain. Disease susceptibility is associated with variants affecting the gene represented in this entry. Susceptibility to intervertebral disk disease, particularly lumbar disk degeneration, is conferred by a triplet repeat expansion polymorphism. ASPN allele having 14 aspartic acid repeats in the N-terminal region of the protein (D14), is associated with the disorder in some populations (PubMed:18304494). |
| 607850 | OMIM | Osteoarthritis 3 (OS3) | A degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include pain and joint stiffness often leading to significant disability and joint replacement. Disease susceptibility is associated with variants affecting the gene represented in this entry. Susceptibility to osteoarthritis is conferred by a triplet repeat expansion polymorphism. ASPN allele having 14 aspartic acid repeats in the N-terminal region of the protein (D14), is overrepresented relative to the common allele having 13 aspartic acid repeats (D13). The frequency of the D14 allele increases with disease severity. The D14 allele is also overrepresented in individuals with hip osteoarthritis. |
Interactions
1 interaction