Aliases: KIAA0003, Ang1, AGPT-1.
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 |
|---|---|---|
| Congenital Glaucoma | causative germline loss of function |
mechanism: Angiopoietin-TEK Signaling Insufficiency and Schlemm Canal Hypoplasia
subtype: ANGPT1 PCG
scoped to subtype: ANGPT1 PCG
|
| Hereditary Angioedema | no genetic record |
mechanism: Endothelial adherens junction destabilization; Normal C1-INH contact-system gene dysregulation
subtype: Other normal C1-INH
|
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 |
|---|---|---|---|
| primary congenital glaucoma MONDO:0000365 | AD | Limited 2024-02-15 |
Congenital Glaucoma
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.