STAT1 - Gene browser

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.

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

010
Patient count

Chronic oral thrush: 3 (30.0%)
Patient Count: 3 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (30.0%)
Chronic mucocutaneous candidiasis: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Hypertriglyceridemia: 1 (10.0%)
Patient Count: 1 (10.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (10.0%)
Pancreatitis: 1 (10.0%)
Patient Count: 1 (10.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (10.0%)
Bronchiectasis: 1 (10.0%)
Patient Count: 1 (10.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (10.0%)