Previous symbols: IPF1. Aliases: IDX-1, STF-1, PDX-1, MODY4, GSF, IUF-1.
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 | causative |
mechanism: Monogenic Beta-Cell Dysfunction
subtype: maturity-onset diabetes of the young type 4
scoped to subtype: maturity-onset diabetes of the young type 4
|
| Pancreatic Agenesis | causative germline |
mechanism: PDX1 Protein Destabilization
subtype: PAGEN1
scoped to subtype: PAGEN1
|
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 | Moderate 2022-06-16 |
Diabetes mellitus
causative
|
| pancreatic agenesis 1 MONDO:0024547 | AR | Definitive 2022-06-16 |
Pancreatic Agenesis
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.