ENG - 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
Eisenmenger Syndrome	unknown germline
Hereditary Hemorrhagic Telangiectasia Type 1	causative germline loss of function	mechanism: ENG Loss-of-Function Germline Variant animal model: Mouse dataset: geo:GSE197105
Heritable Pulmonary Arterial Hypertension	causative	mechanism: Impaired BMP/TGF-beta vascular signaling subtype: HHT-associated HPAH scoped to subtype: HHT-associated HPAH
Preeclampsia	biomarker
Hereditary Hemorrhagic Telangiectasia	untyped Pathogenic Mutations	mechanism: Impaired BMP/TGF-beta Signaling in Vascular Endothelium subtype: HHT1 scoped to subtype: HHT1
Juvenile Polyposis Syndrome	untyped Pathogenic Variants
Pulmonary_hypertension	untyped Implicated in PAH

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
telangiectasia, hereditary hemorrhagic, type 1 MONDO:0008535	AD	Definitive 2022-12-05	Hereditary Hemorrhagic Telangiectasia untyped Hereditary Hemorrhagic Telangiectasia Type 1 causative
juvenile polyposis syndrome MONDO:0017380	AD	Limited 2022-12-30	Juvenile Polyposis Syndrome untyped

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