HNF1A across dismech

HNF1A (HNF1 homeobox A) is named by 5 disorder entries.

Typed records

Two entries type HNF1A as causative, Diabetes mellitus; and Hyperinsulinemic Hypoglycemia, both with germline variants (Diabetes mellitus; and Hyperinsulinemic Hypoglycemia). In Hyperinsulinemic Hypoglycemia it shares the node Transcription Factor Dysregulation of the Beta-Cell Secretory Program with HNF4A. In Diabetes mellitus the record is scoped to the monogenic diabetes subtype, for which ClinGen rates the gene definitive, and the gene sits on Monogenic Beta-Cell Dysfunction. Gestational Diabetes Mellitus types it as susceptibility.

Gaps

Two entries name HNF1A without a genetic record for it: Congenital Isolated Hyperinsulinism; and Type 2 Diabetes Mellitus. In Congenital Isolated Hyperinsulinism the gene appears only on a subtype, and that entry's own evidence on HNF1A hyperinsulinism is mixed.

Normal function versus the KB nodes

The KB annotates HNF1A nodes with insulin secretion; and regulation of insulin secretion, while HNF1A itself is a homeodomain transcription activator; the Hyperinsulinemic Hypoglycemia node binds DNA-binding transcription activator activity as decreased. The ai-gene-review layer pinned in the ingest lists 0 core-function terms for HNF1A, so the layers share 0 GO terms; an upstream review centred on DNA-binding transcription activator activity is being completed.