Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 Biomarker disease MGD Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation. 9326937 1997
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 Biomarker disease BEFREE The major ADPKD gene, polycystic kidney disease 1 (PKD1), has recently been identified. 7633405 1995
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease CLINVAR Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease. 26139440 2016
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Novel mutations in the duplicated region of PKD1 gene. 10854095 2000
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease BEFREE Family screening for polycystic kidney disease was negative and mutations in polycystic kidney disease 1 and 2 genes (PKD1 and PKD2) were absent. 23165645 2012
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 Biomarker disease CLINGEN Thirteen novel mutations of the replicated region of PKD1 in an Asian population. 11012875 2000
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 Biomarker disease MGD Pkd1 and Nek8 mutations affect cell-cell adhesion and cilia in cysts formed in kidney organ cultures. 17928412 2008
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. 22508176 2012
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease. 9259200 1997
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT A complete mutation screen of the ADPKD genes by DHPLC. 11967008 2002
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 Biomarker disease MGD Cardiovascular, skeletal, and renal defects in mice with a targeted disruption of the Pkd1 gene. 11593033 2001
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations. 12482949 2002
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 Biomarker disease BEFREE Among the patients included, 221 (50.9%) had truncating PKD1 (PKD1-T), 141 (32.5%) nontruncating PKD1 (PKD1-NT) and 72 (16.6%) PKD2 mutations. 26932689 2016
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 Biomarker disease CLINGEN Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity. 23064367 2012
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 Biomarker disease BEFREE These findings suggest that the first step toward cyst formation in PKD1 patients is the loss of one functional copy of polycystin 1, which indirectly supports the "two-hit" model of cystogenesis where a second somatic mutation inactivating the normal allele is necessary to occur for development of the disease condition. 10923038 2000
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease. 11773467 2002
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 Biomarker disease MGD Comparison of Pkd1-targeted mutants reveals that loss of polycystin-1 causes cystogenesis and bone defects. 11689485 2001
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 Biomarker disease GENOMICS_ENGLAND Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease. 23624871 2013
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients. 12007219 2002
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 Biomarker disease GENOMICS_ENGLAND Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. 20558538 2010
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns. 15772804 2005
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Thirteen novel mutations of the replicated region of PKD1 in an Asian population. 11012875 2000
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families. 11857740 2002
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Mutation screening of the PKD1 transcript by RT-PCR. 12070253 2002