Type	Entity	Source evidence	Confidence	Extractor
gene	PKD2	“Approximately 89% of ADPKD patients had either PKD1 or PKD2 gene mutations.”	0.98	hgnc_dict_v1
phenotype	renal failure	“Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing.”	0.93	phenotype_alias_lexicon_v2
gene	PKD1	“Approximately 89% of ADPKD patients had either PKD1 or PKD2 gene mutations.”	0.98	hgnc_dict_v1
gene	PKD2L2	“Three detected variants were novel, identified at PKD1 (c.1758A > C), PKD2L2 (c.1364A > T), and TSC2 (deletion of a’a at the 3’UTR, R1680C) genes.”	0.98	hgnc_dict_v1

PMID 15900113 | DOI 10.1097/01.pap.0000163959.29032.1f · Advances in anatomic pathology · 2005 · 4 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	PKD2	“In the remaining (10-15%) cases, the disease is milder and is caused by mutational changes in another gene (PKD2), which is located at chromosome 4 (4q21-23) and encodes polcystin-2, a transmembrane protein, which acts as a nonspecific calcium-permeable channel.”	0.98	hgnc_dict_v1
phenotype	renal failure	“As the cysts enlarge over many decades, the normal renal parenchyma is progressively destroyed, leading to renal failure.”	0.98	phenotype_alias_lexicon_v2
gene	PKD1	“In a majority of cases (80-85%), the gene involved is PKD1, which is located on chromosome 16 (16q13.3) and encodes polycystin-1, a large receptor-like integral membrane protein that contains several extracellular motifs indicative of cell-cell and cell-matrix interaction.”	0.98	hgnc_dict_v1
phenotype	polycystic kidney disease	“Molecular basis of autosomal dominant polycystic kidney disease.”	0.98	phenotype_alias_lexicon_v2