In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
16p11.2 Deletion Syndrome modifier
mechanism: TBX6 Compound Dosage Deficiency; TBX6 Dosage Reduction
Mayer-Rokitansky-Kuster-Hauser_Syndrome susceptibility
mechanism: Loss of Mesodermal Developmental Transcription Factor Dosage
Spondylocostal Dysostosis no genetic record
mechanism: Segmentation Clock Gene Disruption
subtype: SCDO5
TBX6-Associated Congenital Scoliosis no genetic record
mechanism: TBX6 Dosage Insufficiency at the Determination Wavefront
Mechanism modules · computed from kb/

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.