TIMP3 - dismech genes

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.

Disorder	Relationship	Where the gene appears
Age-Related Macular Degeneration	susceptibility germline	mechanism: Bruch Membrane Protein Homeostasis Gene Variation
Sorsby Fundus Dystrophy	causative germline CLINGEN: definitive	mechanism: TIMP3 Cysteine-Altering Variant

ClinGen gene–disease validity · snapshot 2026-10-24 · 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 disease	MOI	Classification	dismech entry
Sorsby fundus dystrophy MONDO:0007640	AD	Definitive 2021-07-02	Sorsby Fundus Dystrophy causative

Identity from HGNC (snapshot 2026-10-24). Page layers are described in the gene pages documentation.