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STAT1

signal transducer and activator of transcription 1

HCNC Approved Symbol
STAT1 (HGNC:11362)
Genomic Coordinates
2:190,969,149 - 191,014,171 (2q32.2)
Synonyms
STAT91, ISGF-3
Disease Associations
This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

10Patients

In total, 10 patients were diagnosed with a variant in the STAT1 gene.

Frequently observed phenotypes

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

Chronic oral thrush
 3 (30.0%)
Chronic mucocutaneous candidiasis
 2 (20.0%)
Hypertriglyceridemia
 
1 (10.0%)
Pancreatitis
 
1 (10.0%)
Bronchiectasis
 
1 (10.0%)
STAT1 - Gene browser | 3billion