Previous symbols: CCAL2, CMDJ. Aliases: HANK, ANK, CPPDD, SLC62A1.
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 |
|---|---|---|
| Craniometaphyseal Dysplasia | causative |
mechanism: Reduced ANKH-Mediated Pyrophosphate Export
subtype: AD-CMD
scoped to subtype: AD-CMD
|
| Benign Familial Infantile Epilepsy |
untyped
Causal recurrent start-region variant
|
mechanism: ANKH Start-Region Variant With Unresolved Epilepsy Mechanism
discussion: (unnamed)
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.