Aliases: fV.
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 Factor V Deficiency |
causative
germline
CLINGEN: definitive
|
|
| Legg-Calve-Perthes Disease | risk factor |
mechanism: Thrombophilic Predisposition to Epiphyseal Vascular Occlusion
|
| Livedoid vasculopathy | susceptibility | |
| Placental Abruption | susceptibility | |
| Protein S Deficiency | modifier | |
| Pulmonary Embolism | susceptibility germline | |
| Sneddon syndrome | risk factor | |
| Thrombophilia | causative |
mechanism: Factor V Leiden-Mediated Activated Protein C Resistance
subtype: Factor V Leiden Thrombophilia
scoped to subtype: Factor V Leiden Thrombophilia
|
| Budd-Chiari Syndrome |
untyped
Inherited prothrombotic risk factor
|
mechanism: Systemic Prothrombotic Predisposition
|
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 activated protein C resistance MONDO:0008560 | AD | Definitive 2019-09-30 |
Thrombophilia
causative
|
| congenital factor V deficiency MONDO:0009210 | AR | Definitive 2020-03-25 |
Congenital Factor V Deficiency
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.