ENG - Gene browser

ENG

endoglin

HCNC Approved Symbol: ENG (HGNC:3349)
Genomic Coordinates: 9:127,815,016 - 127,854,658 (9q34.11)
Synonyms: END, HHT1, CD105, ORW1, ORW
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

14Patients

In total, 14 patients were diagnosed with a variant in the ENG gene.

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

014
Patient count

Pulmonary arteriovenous malformation: 7 (50.0%)
Patient Count: 7 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
7 (50.0%)
Telangiectasia: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Epistaxis: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Nail bed telangiectasia: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Elevated serum creatine kinase: 1 (7.1%)
Patient Count: 1 (7.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (7.1%)