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DSG2

desmoglein 2

HCNC Approved Symbol
DSG2 (HGNC:3049)
Genomic Coordinates
18:31,498,177 - 31,549,008 (18q12.1)
Synonyms
CDHF5
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

12Patients

In total, 12 patients were diagnosed with a variant in the DSG2 gene.

Frequently observed phenotypes

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

Left ventricular hypertrophy
 2 (16.7%)
Ablepharon
 
1 (8.3%)
Facial hypoplasia
 
1 (8.3%)
Genital ambiguity
 
1 (8.3%)
Lower limb deformities
 
1 (8.3%)
DSG2 - Gene browser | 3billion