Previous symbols: BFD, BF. Aliases: H2-Bf.
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 |
|---|---|---|
| Age-Related Macular Degeneration | susceptibility germline |
mechanism: Complement-Pathway Genetic Susceptibility
|
| Atypical Hemolytic Uremic Syndrome | causative |
mechanism: Gain-of-Function C3 Convertase Activity
subtype: CFB-aHUS
scoped to subtype: CFB-aHUS
|
| Glomerulonephritis | susceptibility |
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 |
|---|---|---|---|
| atypical hemolytic-uremic syndrome with B factor anomaly MONDO:0013042 | AD | Moderate 2023-07-02 |
Atypical Hemolytic Uremic Syndrome
causative
|
| C3 glomerulonephritis MONDO:0013892 | AD | Limited 2024-11-27 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.