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 |
|---|---|---|
| Neurodevelopmental Disorder With or Without Autism or Seizures | causative de novo loss of function |
mechanism: Cullin-3 Haploinsufficiency and Reduced CRL3 Ligase Capacity; Heterozygous CUL3 Loss-of-Function Variant
animal model: CUL3-deficient mouse (dopaminergic/VTA); Cholinergic-neuron-restricted Cul3 knockout mouse; Constitutive Cul3 heterozygous mouse (neuronal migration); Cul3 germline haploinsufficient mouse; Region- and cell-type-restricted Cul3 conditional knockout mice
dataset: geo:GSE144046
|
| KLHL24-Related Hypertrophic Cardiomyopathy | no genetic record |
mechanism: Loss of CUL3-KLHL24 Substrate Adaptor Function
|
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 |
|---|---|---|---|
| pseudohypoaldosteronism type 2E MONDO:0013782 | AD | Definitive 2021-12-01 |
no dismech entry |
| complex neurodevelopmental disorder MONDO:0100038 | AD | Definitive 2021-01-16 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.