TYR - Gene browser

TYR

tyrosinase

HCNC Approved Symbol: TYR (HGNC:12442)
Genomic Coordinates: 11:89,177,875 - 89,295,759 (11q14.3)
Synonyms: OCAIA, OCA1A, OCA1
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

39Patients

In total, 39 patients were diagnosed with a variant in the TYR gene.

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

039
Patient count

Albinism: 25 (64.1%)
Patient Count: 25 (64.1%)
% of total patients presenting each phenotype is shown in parentheses.
25 (64.1%)
White hair: 17 (43.6%)
Patient Count: 17 (43.6%)
% of total patients presenting each phenotype is shown in parentheses.
17 (43.6%)
Depigmentation/hyperpigmentation of skin: 14 (35.9%)
Patient Count: 14 (35.9%)
% of total patients presenting each phenotype is shown in parentheses.
14 (35.9%)
Depigmented eyebrow: 13 (33.3%)
Patient Count: 13 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
13 (33.3%)
Depigmented eyelashes: 13 (33.3%)
Patient Count: 13 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
13 (33.3%)