Previous symbols: RAD53. Aliases: CDS1, CHK2, HuCds1, PP1425, bA444G7.
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 |
|---|---|---|
| CHEK2-related Cancer Predisposition | causative germlinesomatic loss of function |
mechanism: Germline CHEK2 Loss of Function; Somatic CHEK2 Second-Hit Alteration
|
| Pediatric Acute-onset Neuropsychiatric Syndrome | susceptibility germline |
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 |
|---|---|---|---|
| familial ovarian cancer MONDO:0016248 | AD | Refuted 2024-11-04 |
no dismech entry |
| CHEK2-related cancer predisposition MONDO:0700271 | AD | Definitive 2024-11-04 |
CHEK2-related Cancer Predisposition
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.