Previous symbols: PROS.
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 |
|---|---|---|
| Protein S Deficiency | causative germline loss of function |
mechanism: Reduced Protein S Cofactor Activity
subtype: Severe AR; Type I; Type II; Type III
|
| Pulmonary Embolism | susceptibility germline | |
| Thrombophilia | causative |
mechanism: Protein S Deficiency
subtype: Protein S Deficiency
scoped to subtype: Protein S Deficiency
|
| Chlorophacinone Poisoning | no genetic record |
mechanism: 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 |
|---|---|---|---|
| protein S deficiency MONDO:0002304 | SD | Definitive 2020-01-22 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.