PURA - Gene browser

PURA

purine rich element binding protein A

HCNC Approved Symbol: PURA (HGNC:9701)
Genomic Coordinates: 5:140,114,109 - 140,125,619 (5q31.3)
Synonyms: PURALPHA, PUR1, PUR-ALPHA
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

23Patients

In total, 23 patients were diagnosed with a variant in the PURA gene.

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

023
Patient count

Global developmental delay: 7 (30.4%)
Patient Count: 7 (30.4%)
% of total patients presenting each phenotype is shown in parentheses.
7 (30.4%)
Generalized hypotonia: 5 (21.7%)
Patient Count: 5 (21.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (21.7%)
Epilepsy: 4 (17.4%)
Patient Count: 4 (17.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (17.4%)
Intellectual disability: 4 (17.4%)
Patient Count: 4 (17.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (17.4%)
Speech delay: 4 (17.4%)
Patient Count: 4 (17.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (17.4%)