SLC5A7

solute carrier family 5 member 7

2 disorders 2 untyped 2q12.3 gene with protein product

HGNC:14025 Monarch NCBI Gene 60482 ENSG00000115665 UniProt Q9GZV3 OMIM 608761

Aliases: hCHT, CHT1, ChT.

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
Congenital Myasthenic Syndrome	untyped Causal	mechanism: Presynaptic Acetylcholine Handling Defect subtype: CMS20 scoped to subtype: CMS20
Distal Hereditary Motor Neuronopathy, Autosomal Dominant	untyped	mechanism: Motor Neuron and Distal Axon Gene Defect subtype: dHMN7A scoped to subtype: dHMN7A

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
neuronopathy, distal hereditary motor, type 7A MONDO:0008024	AD	Moderate 2026-08-08	Distal Hereditary Motor Neuronopathy, Autosomal Dominant untyped

Mechanism modules · computed from kb/

neuromuscular_transmission_failure via Congenital Myasthenic Syndrome

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