SLC25A13 - Gene browser

SLC25A13

solute carrier family 25 member 13

HCNC Approved Symbol: SLC25A13 (HGNC:10983)
Genomic Coordinates: 7:96,120,220 - 96,322,098 (7q21.3)
Synonyms: CITRIN, ARALAR2, CTLN2
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

8Patients

In total, 8 patients were diagnosed with a variant in the SLC25A13 gene.

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

08
Patient count

Cholestasis: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Hepatomegaly: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Abnormal acetylcarnitine profile: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Abnormal circulating acetylcarnitine concentration: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Abnormality of the coagulation cascade: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)