NUP133 - Gene browser

NUP133

nucleoporin 133

HCNC Approved Symbol: NUP133 (HGNC:18016)
Genomic Coordinates: 1:229,440,259 - 229,508,341 (1q42.13)
Synonyms: FLJ10814
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

5Patients

In total, 5 patients were diagnosed with a variant in the NUP133 gene.

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

05
Patient count

End stage renal disease: 5 (100.0%)
Patient Count: 5 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
5 (100.0%)
Stage 5 chronic kidney disease: 4 (80.0%)
Patient Count: 4 (80.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (80.0%)
Left ventricular hypertrophy: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Azotemia: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Mild hearing impairment: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)