Previous symbols: HSCR1, MEN2A, MTC1, MEN2B. Aliases: PTC, CDHF12, RET51, CDHR16.
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 |
|---|---|---|
| Anaplastic Thyroid Carcinoma | somatic driver somatic |
mechanism: MAPK-Activating Truncal Driver Alteration
|
| Multiple Endocrine Neoplasia Type 2 | causative germline |
mechanism: RET Oncogene Activation
subtype: Familial Medullary Thyroid Carcinoma (FMTC); MEN2A; MEN2B
|
| Primary Cutaneous Amyloidosis | susceptibility |
subtype: MEN2A-Associated Cutaneous Lichen Amyloidosis
scoped to subtype: MEN2A-Associated Cutaneous Lichen Amyloidosis
|
| Hirschsprung Disease |
untyped
Germline Mutations
|
|
| Inflammatory Myofibroblastic Tumor |
untyped
Causal somatic gene rearrangement (ALK-negative subset)
|
|
| Medullary Thyroid Carcinoma |
untyped
Germline and Somatic Activating Mutations
|
|
| Papillary Thyroid Carcinoma |
untyped
Somatic Gene Fusions
|
|
| Parathyroid Hyperplasia |
untyped
Predisposing
|
scoped to subtype: Primary MGD
|
| Pheochromocytoma and Paraganglioma |
untyped
Germline Activating Mutations
|
|
| Renal Agenesis |
untyped
Ureteric bud outgrowth signaling / CAKUT
|
mechanism: GDNF receptor complex failure at the Wolffian duct
scoped to subtype: Syndromic
|
| RET Fusion-Positive Thyroid Cancer |
untyped
Somatic Gene Fusions
|
|
| RET-Rearranged Non-Small Cell Lung Cancer |
untyped
Somatic Rearrangement
|
|
| Medullary Sponge Kidney | no genetic record |
mechanism: Disrupted GDNF-RET Signaling at the Ureteric Bud-Metanephric Mesenchyme Interface
|
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 2B MONDO:0008082 | AD | Definitive 2020-05-14 |
Multiple Endocrine Neoplasia Type 2
causative
|
| multiple endocrine neoplasia type 2A MONDO:0008234 | AD | Definitive 2020-05-14 |
Multiple Endocrine Neoplasia Type 2
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.