ai-gene-review has this gene at status DRAFT; 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 |
|---|---|---|
| Hereditary Fructose Intolerance |
untyped
Causative
|
mechanism: Aldolase B deficiency
diagnosis: Molecular genetic testing
|
| Isolated Sedoheptulokinase Deficiency | no genetic record |
mechanism: Fructokinase and aldolase B bypass to erythritol
|
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 |
|---|---|---|---|
| hereditary fructose intolerance MONDO:0009249 | AR | Definitive 2025-09-04 |
Hereditary Fructose Intolerance
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.