Aliases: LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184.
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 |
|---|---|---|
| Cold Agglutinin Disease | modifier somatic | |
| WHIM Syndrome 1 | causative germline gain of function |
mechanism: CXCR4 Carboxy-Terminal Gain-of-Function Variant
|
| Waldenstrom Macroglobulinemia |
untyped
Somatic Mutation
|
mechanism: CXCR4 WHIM-like Subclonal Mutation
subtype: CXCR4-mutated Waldenstrom Macroglobulinemia
|
| Pancreatic Ductal Adenocarcinoma | no genetic record |
mechanism: CAF-Mediated T Cell Exclusion
|
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 |
|---|---|---|---|
| WHIM syndrome MONDO:0023880 | AD | Definitive 2023-01-17 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.