Aliases: ATPIH, ATPIS, KIAA1021.
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 |
|---|---|---|
| Hearing Loss Autosomal Dominant 84 | causative |
mechanism: ATP11A C-Terminal and 3' Region Variants
subtype: AUNA2
animal model: Conditional Atp11a knockout mouse; atp11a loss-of-function zebrafish
|
| Auditory Neuropathy |
untyped
Causative
|
mechanism: Auditory Nerve Dyssynchrony
subtype: AUNA2
scoped to subtype: AUNA2
|
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 |
|---|---|---|---|
| autosomal dominant nonsyndromic hearing loss MONDO:0019587 | AD | Moderate 2025-05-21 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.