Aliases: BS, RECQL3, RECQ2.
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 |
|---|---|---|
| Bloom syndrome |
untyped
Biallelic loss-of-function
|
mechanism: Biallelic BLM Loss of Function
dataset: geo:GSE283485
|
| Peripheral T-Cell Lymphoma |
untyped
Germline Predisposing Mutation (Bloom Syndrome)
|
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 |
|---|---|---|---|
| colorectal cancer MONDO:0005575 | AD | Limited 2024-11-22 |
BRAF V600E-Mutant Colorectal Cancer
not named
HER2-Positive Colorectal Cancer
not named
MSI-High Colorectal Cancer
not named
|
| Bloom syndrome MONDO:0008876 | AR | Definitive 2019-04-19 |
Bloom syndrome
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.