Previous symbols: HF, HF1, HF2. Aliases: HUS, FHL1, ARMS1, ARMD4.
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: Loss of Surface Complement Regulation
subtype: CFH-aHUS
scoped to subtype: CFH-aHUS
|
| Glomerulonephritis | susceptibility | |
| Gonorrhea | susceptibility |
mechanism: Haematogenous Dissemination
|
| IgA Nephropathy | protective |
mechanism: Mesangial immune complex deposition and complement activation
|
| Multisystem Inflammatory Syndrome in Children (MIS-C) |
untyped
Autoantigen target in complement dysregulation
|
mechanism: Endothelial Injury and Complement Activation
|
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 |
|---|---|---|---|
| C3 glomerulonephritis MONDO:0013892 | AR | Definitive 2024-02-21 |
no dismech entry |
| atypical hemolytic-uremic syndrome MONDO:0016244 | SD | Definitive 2023-07-02 |
Atypical Hemolytic Uremic Syndrome
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.