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 |
|---|---|---|
| C1Q Deficiency | causative |
mechanism: Absent or Dysfunctional C1q
subtype: C1QD1
scoped to subtype: C1QD1
|
| Alzheimer Disease | no genetic record |
mechanism: Complement-Mediated Microglial Synapse Elimination
|
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 |
|---|---|---|---|
| systemic lupus erythematosus related to C1QA MONDO:1060174 | AR | Definitive 2025-03-12 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-24). Page layers are described in the gene pages documentation.