PKD1 - Gene browser

PKD1

polycystin 1, transient receptor potential channel interacting

HCNC Approved Symbol: PKD1 (HGNC:9008)
Genomic Coordinates: 16:2,088,708 - 2,135,898 (16p13.3)
Synonyms: PBP, Pc-1, TRPP1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

103Patients

In total, 103 patients were diagnosed with a variant in the PKD1 gene.

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

0103
Patient count

Polycystic kidney dysplasia: 32 (31.1%)
Patient Count: 32 (31.1%)
% of total patients presenting each phenotype is shown in parentheses.
32 (31.1%)
End-stage renal disease: 17 (16.5%)
Patient Count: 17 (16.5%)
% of total patients presenting each phenotype is shown in parentheses.
17 (16.5%)
Hepatic cysts: 9 (8.7%)
Patient Count: 9 (8.7%)
% of total patients presenting each phenotype is shown in parentheses.
9 (8.7%)
Multiple renal cysts: 8 (7.8%)
Patient Count: 8 (7.8%)
% of total patients presenting each phenotype is shown in parentheses.
8 (7.8%)
Renal cyst: 7 (6.8%)
Patient Count: 7 (6.8%)
% of total patients presenting each phenotype is shown in parentheses.
7 (6.8%)