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 |
|---|---|---|
| Hereditary Angioedema | causative |
mechanism: Normal C1-INH contact-system gene dysregulation; Plasmin-mediated contact-system amplification
subtype: PLG-related normal C1-INH
|
| Hypoplasminogenemia |
untyped
Biallelic Pathogenic Variant
|
mechanism: PLG-Related Plasminogen Deficiency
|
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 |
|---|---|---|---|
| hypoplasminogenemia MONDO:0009009 | AR | Definitive 2019-10-23 |
Hypoplasminogenemia
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.