DISEASES

Disease-gene associations mined from literature

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Human genes for esophageal atresia

Esophageal atresia [DOID:10485]

Esophageal atresia (or Oesophageal atresia) is a congenital medical condition (birth defect) which affects the alimentary tract. It causes the esophagus to end in a blind-ended pouch rather than connecting normally to the stomach. It comprises a variety of congenital anatomic defects that are caused by an abnormal embryological development of the esophagus. Anatomically Rcharacteryed by a congenital obstruction of4ry the light of the esophagus with interrupted the continuity of the esophageal wall.[clarification needed] The esophagus is divided into two blind pouches, an GFistula]] (TEF).

Synonyms:  esophageal atresia,  DOID:10485,  Congenital atresia of esophagus (disorder),  Congenital imperforate esophagus,  Imperforate esophagus (disorder) ...

The disease associations are derived via automatic text mining of the biomedical literature and have not been manually verified. The confidence of each association is signified by stars, where ★★★★☆ is the highest confidence and ★☆☆☆☆ is the lowest.

Each disease–gene association is based on a text-mining score, which is proportional to 1) the absolute number of comentionings and 2) the ratio of observed to expected comentionings (i.e. the enrichment). These scores are normalized to z-scores by comparing them to a random background. This is represented by stars, each star corresponding to two standard deviations above the mean of the background distribution.

Developed by Sune Frankild and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.