| LncRNA Information | ||||||
|---|---|---|---|---|---|---|
| ID | EL1100 | Name | PTHLH | Aliases | BDE2; HHM; PLP; PTHR; PTHRP | |
| Species | Homo sapiens | Chromosome | 12 | Start site | 27958084 | |
| End site | 27972705 | Chain | minus | Exon NO. | 9 | |
| Assembly | Ensembl Release 89 | Class | N/A | NCBI accession | N/A | |
| Ensembl | ENSG00000087494 | Sequence | N/A | |||
| Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | Method | Sample | Expression pattern | Dysfunction type | Description | PMID | Source | ||
| brachydactyly | N/A | N/A | N/A | expression | Silencing of the lncRNA, PTHLH, or SOX9 revealed a feedback mechanism involving an expression-dependent network in humans. In the BDE patients, the human lncRNA was upregulated by the disrupted chromosomal association. | 23093776 | LncRNADisease | ||