NPHP1 - Gene browser

NPHP1

nephrocystin 1

HCNC Approved Symbol: NPHP1 (HGNC:7905)
Genomic Coordinates: 2:110,123,348 - 110,205,013 (2q13)
Synonyms: JBTS4, SLSN1, NPH1
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

6Patients

In total, 6 patients were diagnosed with a variant in the NPHP1 gene.

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

06
Patient count

Nephrotic syndrome: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Nephrotic syndrome, steroid-resistant: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Steroid-resistant nephrotic syndrome: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Decreased visual acuity: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Kidney disease: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)