ECEL1 - Gene browser

ECEL1

endothelin converting enzyme like 1

HCNC Approved Symbol: ECEL1 (HGNC:3147)
Genomic Coordinates: 2:232,479,827 - 232,487,834 (2q37.1)
Synonyms: XCE, DINE
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

13Patients

In total, 13 patients were diagnosed with a variant in the ECEL1 gene.

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

013
Patient count

Ptosis: 5 (38.5%)
Patient Count: 5 (38.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (38.5%)
Clenched hands: 4 (30.8%)
Patient Count: 4 (30.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (30.8%)
Scoliosis: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)
Arthrogryposis multiplex: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)
Talipes: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)