Aliases: MGC10442.
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 |
|---|---|---|
| Diabetes mellitus | disputed |
scoped to subtype: maturity-onset diabetes of the young type 11
|
| Kawasaki Disease |
untyped
B lymphoid tyrosine kinase involved in B-cell receptor signaling
|
mechanism: Immune Response Dysregulation
|
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 |
|---|---|---|---|
| monogenic diabetes MONDO:0015967 | AD | Refuted 2023-01-17 |
Diabetes mellitus
disputed
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.