Aliases: TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3.
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 |
|---|---|---|
| Autosomal Recessive Osteopetrosis 1 | causative | |
| Osteopetrosis | causative |
mechanism: Defective osteoclast acidification
subtype: ARO
scoped to subtype: ARO
|
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 |
|---|---|---|---|
| dysosteosclerosis MONDO:0009138 | AR | Limited 2023-12-04 |
no dismech entry |
| autosomal recessive osteopetrosis 1 MONDO:0009815 | AR | Definitive 2023-09-28 |
Autosomal Recessive Osteopetrosis 1
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.