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ITGB4

integrin subunit beta 4

HCNC Approved Symbol
ITGB4 (HGNC:6158)
Genomic Coordinates
17:75,721,459 - 75,757,818 (17q25.1)
Synonyms
CD104
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the ITGB4 gene.

Frequently observed phenotypes

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

Congenital absence of skin
 1 (100.0%)
Congenital cataract
 1 (100.0%)
Congenital pyloric atresia
 1 (100.0%)
Nail dystrophy
 1 (100.0%)
Pretibial epidermolysis bullosa
 1 (100.0%)
ITGB4 - Gene browser | 3billion