Curated summary · agent-written · kb/genes/curated/hgnc_6257.md

All 15 claims checked against the KB draft

KCNJ11 across dismech

KCNJ11 (potassium inwardly rectifying channel subfamily J member 11) is named by 5 disorder entries, including Congenital Isolated Hyperinsulinism; and Hyperinsulinemic Hypoglycemia.

Normal function

The ingest layer carries no ai-gene-review core functions for KCNJ11 (0 terms): the review was created after the pinned ai-gene-review snapshot and will appear when the ingest is refreshed.

Causative records

The two hyperinsulinism entries record the variant origin as germline and germline. In Congenital Isolated Hyperinsulinism the gene sits on KATP Channel Loss of Function, and in Hyperinsulinemic Hypoglycemia on K-ATP Channel Loss of Function. Diabetes mellitus records the gene as causative, and ClinGen rates it definitive for monogenic diabetes.

Where the layers disagree

1 entry names KCNJ11 with no relationship type: Type 2 Diabetes Mellitus. ClinGen classifies KCNJ11 for 3 diseases; the one with no matching dismech entry is hyperinsulinemic hypoglycemia, familial, 2, which the hyperinsulinism entries cover only as a narrower MONDO mapping.

Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.

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.

Disorder	Relationship	Where the gene appears
Congenital Isolated Hyperinsulinism	causative germline	mechanism: KATP Channel Loss of Function subtype: KATP-HI Diffuse; KATP-HI Focal scoped to subtype: KATP-HI Diffuse
Diabetes mellitus	causative	mechanism: Monogenic Beta-Cell Dysfunction subtype: PNDM2; TNDM3; maturity-onset diabetes of the young type 13 scoped to subtype: PNDM2, TNDM3, type 2 diabetes mellitus
Hyperinsulinemic Hypoglycemia	causative germline	mechanism: Focal Lesion Formation by Paternal K-ATP Variant and Somatic 11p15 Maternal Loss; K-ATP Channel Loss of Function subtype: Diazoxide-Unresponsive HI; Diffuse HI; Focal HI
Placental Abruption	susceptibility
Type 2 Diabetes Mellitus	untyped Risk Factor	mechanism: Beta Cell Dysfunction computational model: Topp Beta-Cell Mass / Insulin / Glucose Model

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
hyperinsulinemic hypoglycemia, familial, 2 MONDO:0011153	AD	Limited 2026-06-02	no dismech entry
hyperinsulinemic hypoglycemia, familial, 2 MONDO:0011153	AR	Definitive 2026-03-03	no dismech entry
monogenic diabetes MONDO:0015967	AD	Definitive 2023-01-05	Diabetes mellitus causative