HCFC1 - dismech genes

In the knowledge base · computed from kb/ at build time

Disorders

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 subtype: cblX scoped to subtype: cblX
Methylmalonic Aciduria and Homocystinuria cblL Type	unknown	animal model: Hcfc1 and Ronin mouse models
OGT-Congenital Disorder of Glycosylation	no genetic record	mechanism: Impaired HCF1 Proteolytic Maturation

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

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
X-linked intellectual disability MONDO:0100284	XL	Definitive 2021-03-17	no dismech entry

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.