ai-gene-review has this gene at status IN_PROGRESS; 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 |
|---|---|---|
| Peroxisome Biogenesis Disorder |
untyped
Pathogenic Variants
|
|
| Zellweger Spectrum Disorders |
untyped
Autosomal recessive causal pathogenic variant. Peroxisomal matrix protein import depends on PEX14 alongside PEX13 and the import receptor PEX5.
|
mechanism: Docking and Translocation Module Failure
subtype: PEX14-ZSD
scoped to subtype: PEX14-ZSD
|
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 |
|---|---|---|---|
| peroxisome biogenesis disorder MONDO:0019234 | AR | Definitive 2019-09-20 |
Peroxisome Biogenesis Disorder
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.