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.

DisorderRelationshipWhere 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
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 diseaseMOIClassificationdismech entry
multiple endocrine neoplasia type 2B MONDO:0008082 AD Definitive
2020-05-14
multiple endocrine neoplasia type 2A MONDO:0008234 AD Definitive
2020-05-14
Mechanism modules · computed from kb/

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.