KRT1 - Gene browser

KRT1

keratin 1

HCNC Approved Symbol: KRT1 (HGNC:6412)
Genomic Coordinates: 12:52,674,736 - 52,680,407 (12q13.13)
Synonyms: KRT1A, EHK1
Disease Associations: This gene is associated with the following 6 diseases in OMIM.

8Patients

In total, 8 patients were diagnosed with a variant in the KRT1 gene.

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

08
Patient count

Palmoplantar hyperkeratosis: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Congenital ichthyosis: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Epidermolytic hyperkeratosis: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Palmoplantar keratoderma: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Atrial septal defect: 1 (12.5%)
Patient Count: 1 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
1 (12.5%)