GALT - Gene browser

GALT

galactose-1-phosphate uridylyltransferase

HCNC Approved Symbol: GALT (HGNC:4135)
Genomic Coordinates: 9:34,646,675 - 34,651,035 (9p13.3)
Synonyms
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 GALT gene.

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

08
Patient count

Cholestasis: 5 (62.5%)
Patient Count: 5 (62.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (62.5%)
Hypergalactosemia: 4 (50.0%)
Patient Count: 4 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (50.0%)
Hypoglycemia: 3 (37.5%)
Patient Count: 3 (37.5%)
% of total patients presenting each phenotype is shown in parentheses.
3 (37.5%)
Hepatomegaly: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Cataract: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)