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 |
|---|---|---|
| Multiple Endocrine Neoplasia Type 1 | causative germlinesomatic loss of function |
mechanism: Germline MEN1 First-Hit Inactivation; Somatic MEN1 Second-Hit Inactivation
|
| Non-functional Pancreatic Neuroendocrine Tumor | somatic driver somatic |
mechanism: MEN1/DAXX/ATRX Chromatin Regulator Inactivation
|
| Thymic Neuroendocrine Carcinoma | causativesomatic driver germlinesomatic |
mechanism: Menin Tumor Suppressor Loss
|
| Gastroenteropancreatic Neuroendocrine Neoplasm |
untyped
Loss-of-function mutations in ~44% of sporadic pancreatic NETs; defines MEN1 syndrome
|
|
| Pancreatic Neuroendocrine Tumor |
untyped
Loss-of-function mutations in ~44% of sporadic pNETs; defines MEN1 syndrome
|
|
| Parathyroid Hyperplasia |
untyped
Predisposing
|
scoped to subtype: Primary MGD
|
| Mixed Phenotype Acute Leukemia | no genetic record |
mechanism: KMT2A Rearrangement and Aberrant HOXA Transcriptional Program
|
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 |
|---|---|---|---|
| multiple endocrine neoplasia type 1 MONDO:0007540 | AD | Definitive 2020-05-13 |
Multiple Endocrine Neoplasia Type 1
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.