PRKCSH, protein kinase C substrate 80K-H, 5589

N. diseases: 44; N. variants: 5
Disease: Fenestration (morphologic abnormality) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015826
Disease: Fenestration (morphologic abnormality)
Fenestration (morphologic abnormality) 		0.020 Biomarker disease BEFREE Resected specimens of PCLD by laparoscopic fenestration surgery were evaluated by scanning electron microscopy. 29520518 2018
CUI: C0015826
Disease: Fenestration (morphologic abnormality)
Fenestration (morphologic abnormality) 		0.020 GeneticVariation disease BEFREE Liver cyst material was collected through laparoscopic cyst fenestration from 8 patients with PCLD who had a heterozygous germline mutation in PRKCSH. 21856269 2011