PKD1L1 - Gene browser

PKD1L1

polycystin 1 like 1, transient receptor potential channel interacting

HCNC Approved Symbol: PKD1L1 (HGNC:18053)
Genomic Coordinates: 7:47,774,614 - 47,960,906 (7p12.3)
Synonyms: PRO19563
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

4Patients

In total, 4 patients were diagnosed with a variant in the PKD1L1 gene.

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

04
Patient count

Abnormality of the pancreas: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Bronchogenic cyst: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Dilatation of superior mesenteric artery: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Interrupted inferior vena cava with azygous continuation: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Intestinal malrotation: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)