UNC13D - Gene browser

UNC13D

unc-13 homolog D

HCNC Approved Symbol: UNC13D (HGNC:23147)
Genomic Coordinates: 17:75,827,225 - 75,844,404 (17q25.3)
Synonyms: Munc13-4
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

24Patients

In total, 24 patients were diagnosed with a variant in the UNC13D gene.

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

024
Patient count

Fever: 14 (58.3%)
Patient Count: 14 (58.3%)
% of total patients presenting each phenotype is shown in parentheses.
14 (58.3%)
Hepatosplenomegaly: 12 (50.0%)
Patient Count: 12 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
12 (50.0%)
Pancytopenia: 10 (41.7%)
Patient Count: 10 (41.7%)
% of total patients presenting each phenotype is shown in parentheses.
10 (41.7%)
Seizures: 6 (25.0%)
Patient Count: 6 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (25.0%)
Elevated ferritin: 5 (20.8%)
Patient Count: 5 (20.8%)
% of total patients presenting each phenotype is shown in parentheses.
5 (20.8%)