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ACE

angiotensin I converting enzyme

HCNC Approved Symbol
ACE (HGNC:2707)
Genomic Coordinates
17:63,477,061 - 63,498,373 (17q23.3)
Synonyms
ACE1, CD143, DCP1
Disease Associations
This gene is associated with the following 6 diseases in OMIM.

Diagnosed Cases

4Patients

In total, 4 patients were diagnosed with a variant in the ACE gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Neonatal respiratory distress
 2 (50.0%)
Renal cyst
 2 (50.0%)
Renal insufficiency
 2 (50.0%)
Renal tubular dysfunction
 2 (50.0%)
Abnormal renal morphology
 1 (25.0%)
ACE - Gene browser | 3billion