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 |
|---|---|---|
| Pulmonary Embolism | susceptibility germline | |
| Thrombophilia | causative |
mechanism: Protein C Deficiency
subtype: Protein C Deficiency
scoped to subtype: Protein C Deficiency
|
| Chlorophacinone Poisoning | no genetic record |
mechanism: Impaired Gamma-Carboxylation of Vitamin K-Dependent Clotting Factors
|
| Heparin-Induced Thrombocytopenia | no genetic record |
mechanism: Warfarin-Induced Protein C Depletion and Microvascular Thrombosis
|
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 |
|---|---|---|---|
| hereditary thrombophilia due to congenital protein C deficiency MONDO:0019145 | SD | Definitive 2020-01-22 |
Thrombophilia
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.