Version: 8.0.0
Date: Tue Jan 28 2025
3 results
Disease Genes: phox2ba (Dre)

colorectal cancer

Disease
Source: DOID:9256
Definition: A large intestine cancer that is located_in the colon and/or located_in the rectum.
Genes: phox2ba (Dre)

neuroblastoma

Disease
Source: DOID:769
Definition: An autonomic nervous system neoplasm that derives_from immature nerve cells.
Genes: phox2ba (Dre)

congenital central hypoventilation syndrome

Disease
Source: DOID:0060731
Definition: An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes.
Genes: phox2ba (Dre)