SLC26A2 - 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
Atelosteogenesis Type II	causative germline	mechanism: Loss of SLC26A2 Sulfate Transport in Chondrocytes animal model: Mus musculus
Diastrophic Dysplasia	untyped Causative	mechanism: Sulfate Transport Defect in Cartilage
Multiple Epiphyseal Dysplasia	untyped Causative	mechanism: SLC26A2 Sulfate Transport Defect and Disturbed Chondrocyte Homeostasis subtype: rMED scoped to subtype: rMED

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
SLC26A2-related skeletal dysplasia MONDO:0100592	AR	Definitive 2020-08-03	no dismech entry

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