| Disease ID | Source | Name | Description |
| 615709 | OMIM | Sacral agenesis with vertebral anomalies (SAVA) | A disorder characterized by abnormalities of the spine, including sacral agenesis, abnormal ossification of all vertebral bodies, and a persistent notochordal canal during development. The disease is caused by variants affecting the gene represented in this entry. |
| 182940 | OMIM | Neural tube defects (NTD) | Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components. Disease susceptibility is associated with variants affecting the gene represented in this entry. |
| 215400 | OMIM | Chordoma (CHDM) | Rare, clinically malignant tumors derived from notochordal remnants. They occur along the length of the spinal axis, predominantly in the sphenooccipital, vertebral and sacrococcygeal regions. They are characterized by slow growth, local destruction of bone, extension into adjacent soft tissues and rarely, distant metastatic spread. Disease susceptibility is associated with variants affecting the gene represented in this entry. Susceptibility to development of chordomas is due to a T gene duplication. |