SLC37A4 - Gene browser

SLC37A4

solute carrier family 37 member 4

HCNC Approved Symbol: SLC37A4 (HGNC:4061)
Genomic Coordinates: 11:119,024,112 - 119,030,877 (11q23.3)
Synonyms: GSD1b, GSD1c, GSD1d, G6PT, SPX4, G6PT1, G6PT2, G6PT3
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

8Patients

In total, 8 patients were diagnosed with a variant in the SLC37A4 gene.

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

08
Patient count

Hepatomegaly: 3 (37.5%)
Patient Count: 3 (37.5%)
% of total patients presenting each phenotype is shown in parentheses.
3 (37.5%)
Hypotonia: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Ketotic hypoglycemia: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Macrovesicular hepatic steatosis: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Hypertriglyceridemia: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)