TGFBI - Gene browser

TGFBI

transforming growth factor beta induced

HCNC Approved Symbol: TGFBI (HGNC:11771)
Genomic Coordinates: 5:136,028,988 - 136,063,818 (5q31.1)
Synonyms: BIGH3, CDB1, CDGG1, CSD3, LCD1, CSD1, CSD2
Disease Associations: This gene is associated with the following 7 diseases in OMIM.

24Patients

In total, 24 patients were diagnosed with a variant in the TGFBI gene.

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

024
Patient count

Corneal crystals: 6 (25.0%)
Patient Count: 6 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (25.0%)
Cornela disease: 6 (25.0%)
Patient Count: 6 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (25.0%)
Corneal dystrophy: 4 (16.7%)
Patient Count: 4 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
4 (16.7%)
Granular corneal dystrophy: 3 (12.5%)
Patient Count: 3 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
3 (12.5%)
Visual loss: 2 (8.3%)
Patient Count: 2 (8.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (8.3%)