Previous symbols: DCP1. Aliases: ACE1, CD143.
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 |
|---|---|---|
| Renal Tubular Dysgenesis - ACE |
causative
germline
loss of function
CLINGEN: definitive
|
mechanism: ACE Loss of Function
|
| Essential Hypertension |
untyped
Risk Factor
|
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 |
|---|---|---|---|
| renal tubular dysgenesis - ACE MONDO:0700337 | AR | Definitive 2024-12-11 |
Renal Tubular Dysgenesis - ACE
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.