SLC17A5 - 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
Free Sialic Acid Storage Disease	causative germline	mechanism: SLC17A5 Pathogenic Variation subtype: Infantile Free Sialic Acid Storage Disease; Intermediate Severe Salla Disease; Salla Disease
Salla Disease	causative germline	mechanism: SLC17A5 Gene Mutation dataset: PMID:40804080

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
free sialic acid storage disease MONDO:0019366	AR	Definitive 2023-10-30	Free Sialic Acid Storage Disease causative

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