JAG1 - Gene browser

JAG1

jagged canonical Notch ligand 1

HCNC Approved Symbol: JAG1 (HGNC:6188)
Genomic Coordinates: 20:10,637,684 - 10,673,999 (20p12.2)
Synonyms: AHD, AWS, HJ1, CD339, AGS, JAGL1
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

20Patients

In total, 20 patients were diagnosed with a variant in the JAG1 gene.

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

020
Patient count

Short stature: 6 (30.0%)
Patient Count: 6 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (30.0%)
Butterfly vertebrae: 4 (20.0%)
Patient Count: 4 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (20.0%)
Cholestasis: 3 (15.0%)
Patient Count: 3 (15.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (15.0%)
Intrahepatic cholestasis: 3 (15.0%)
Patient Count: 3 (15.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (15.0%)
Hepatomegaly: 2 (10.0%)
Patient Count: 2 (10.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (10.0%)