Aliases: HRIHFB2206, CTG-B45d, CTG-B43a, RONIN.
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 |
|---|---|---|
| Autosomal Dominant Cerebellar Ataxia | causative germline |
mechanism: Coding Polyglutamine Repeat Expansion
subtype: SCA51
scoped to subtype: SCA51
|
| Inborn Disorder of Cobalamin Metabolism and Transport | causative |
mechanism: Reduced MMACHC expression from HCFC1-THAP11-ZNF143 transcriptional dysfunction
subtype: cblL
scoped to subtype: cblL
|
| Methylmalonic Aciduria and Homocystinuria cblL Type | causative |
mechanism: Biallelic THAP11 p.Phe80Leu
animal model: Hcfc1 and Ronin mouse models; thap11-depleted zebrafish embryo
|
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 2024-02-09 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.