Previous symbols: HYRC, HYRC1. Aliases: DNPK1, p350, DNAPK, XRCC7, DNA-PKcs, DNAPKc, DNA-PKC, p460.
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 |
|---|---|---|
| Severe Combined Immunodeficiency |
untyped
Causative
|
mechanism: Defective V(D)J recombination and DNA repair
|
| Parvovirus B19 Infection | no genetic record |
mechanism: Cell Cycle Arrest and Apoptosis
|
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 |
|---|---|---|---|
| severe combined immunodeficiency due to DNA-PKcs deficiency MONDO:0014423 | AR | Definitive 2022-02-01 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.