XPA - Gene browser

XPA

XPA, DNA damage recognition and repair factor

HCNC Approved Symbol: XPA (HGNC:12814)
Genomic Coordinates: 9:97,654,398 - 97,697,340 (9q22.33)
Synonyms: XPAC, XP1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

8Patients

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

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

08
Patient count

Photophobia: 4 (50.0%)
Patient Count: 4 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (50.0%)
Poikiloderma: 3 (37.5%)
Patient Count: 3 (37.5%)
% of total patients presenting each phenotype is shown in parentheses.
3 (37.5%)
Ataxia of gait: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Basal cell carcinoma: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Cutaneous photosensitivity: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)