Aliases: SBF, pHZ-1, STAF.
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 |
|---|---|---|
| Inborn Disorder of Cobalamin Metabolism and Transport | causative |
mechanism: Reduced MMACHC expression from HCFC1-THAP11-ZNF143 transcriptional dysfunction
|
| Methylmalonic Aciduria and Homocystinuria cblL Type | unknown |
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 |
|---|---|---|---|
| methylmalonic aciduria and homocystinuria MONDO:0016826 | AR | Limited 2026-04-10 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.