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 Prothrombin Deficiency | causative germline | |
| Legg-Calve-Perthes Disease | risk factor |
mechanism: Thrombophilic Predisposition to Epiphyseal Vascular Occlusion
|
| Placental Abruption | susceptibility | |
| Pulmonary Embolism | susceptibility germline | |
| Thrombophilia | causative |
mechanism: Prothrombin G20210A-Associated Increased Prothrombin Synthesis
subtype: Prothrombin G20210A Thrombophilia
scoped to subtype: Prothrombin G20210A Thrombophilia
|
| Chlorophacinone Poisoning | no genetic record |
mechanism: Functional Deficiency of Coagulation Factors II, VII, IX and X; Impaired Gamma-Carboxylation of Vitamin K-Dependent Clotting Factors
|
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 |
|---|---|---|---|
| thrombophilia due to thrombin defect MONDO:0008559 | AD | Definitive 2020-06-24 |
Thrombophilia
causative
|
| congenital prothrombin deficiency MONDO:0013361 | AR | Definitive 2020-06-24 |
Congenital Prothrombin Deficiency
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.