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
Autosomal Recessive Nonsyndromic Hearing Loss 97 untyped
Candidate recessive hearing loss association; ClinGen Limited
germline
mechanism: Biallelic MET Missense Variant
variant: MET NM_000245.2:c.2521T>G (p.Phe841Val); MET NM_000245.4:c.948A>G (p.Ile316Met)
Melanoma_in_Congenital_Melanocytic_Nevus untyped
Pathway activation
MET Exon 14 Skipping Non-Small Cell Lung Cancer untyped
Somatic Splice Site Mutation
Autosomal Recessive Nonsyndromic Hearing Loss 26 no genetic record
mechanism: Dysregulated MET/HGF Signaling
BRAF V600E-Mutant Non-Small Cell Lung Cancer no genetic record
mechanism: MAPK Reactivation and Bypass Resistance
Ethmoid Sinus Adenocarcinoma no genetic record somatic
mechanism: Heterogeneous Oncogenic Pathway Mutation
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
papillary renal cell carcinoma MONDO:0017884 AD Definitive
2018-10-11
no dismech entry
nonsyndromic genetic hearing loss MONDO:0019497 AR Limited
2021-03-26
no dismech entry
complex neurodevelopmental disorder MONDO:0100038 AD Disputed
2021-01-19
no dismech entry

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