Aliases: G6PD1.
ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.
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 |
|---|---|---|
| Gilbert's Syndrome | modifier | |
| Rocky Mountain spotted fever | modifier germline | |
| Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency | untyped |
mechanism: Decreased G6PD Enzyme Activity
|
| Malaria |
untyped
Protective modifier and pharmacogenomic risk factor
|
|
| Non-Small Cell Lung Cancer |
untyped
Metabolic Dependency
|
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 |
|---|---|---|---|
| G6PD deficiency MONDO:0005775 | XL | Definitive 2023-06-23 |
|
| anemia, nonspherocytic hemolytic, due to G6PD deficiency MONDO:0010480 | XL | Definitive 2023-06-23 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.