EFEMP1 - 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
Biliary Atresia	susceptibility	mechanism: Impaired Extrahepatic Duct Elastic-Fiber Organization
Doyne Honeycomb Retinal Dystrophy	causative germline gain of function CLINGEN: definitive	mechanism: Fibulin-3 R345W Misfolding and Impaired Secretion treatment: Allele-specific EFEMP1 antisense oligonucleotide (preclinical)
Pelvic Organ Prolapse	susceptibility

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 disease	MOI	Classification	dismech entry
open-angle glaucoma MONDO:0005338	AD	Moderate 2024-12-19	no dismech entry
Doyne honeycomb retinal dystrophy MONDO:0007471	AD	Definitive 2021-08-05	Doyne Honeycomb Retinal Dystrophy causative

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