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 GENOMICS_ENGLAND
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.300 Biomarker disease MGD
Entrez Id: 11127
Gene Symbol: KIF3A
KIF3A 		0.200 Biomarker disease MGD
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 A functional floxed allele of Pkd1 that can be conditionally inactivated in vivo. 15579506 2004
Entrez Id: 3039
Gene Symbol: HBA1
HBA1 		0.030 Biomarker disease BEFREE A long-range restriction map between the alpha-globin complex and a marker closely linked to the polycystic kidney disease 1 (PKD1) locus. 2347584 1990
Entrez Id: 3040
Gene Symbol: HBA2
HBA2 		0.030 Biomarker disease BEFREE A long-range restriction map between the alpha-globin complex and a marker closely linked to the polycystic kidney disease 1 (PKD1) locus. 2347584 1990
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 Biomarker disease MGD A mouse model for polycystic kidney disease through a somatic in-frame deletion in the 5' end of Pkd1. 18385665 2008
Entrez Id: 1948
Gene Symbol: EFNB2
EFNB2 		0.010 AlteredExpression disease BEFREE A mouse tumor angiogenesis model revealed enhanced PKD-1 signaling and expression of ephrin B2 and smooth muscle actin in neovessels of Lewis Lung Carcinomas, along with low-CD36 expression or CD36 deficiency. 27013613 2016
Entrez Id: 2671
Gene Symbol: GFER
GFER 		0.010 Biomarker disease BEFREE A new human gene located in the PKD1 region of chromosome 16 is a functional homologue to ERV1 of yeast. 8575761 1995
Entrez Id: 5111
Gene Symbol: PCNA
PCNA 		0.010 GeneticVariation disease BEFREE A novel cyclin gene (CCNF) in the region of the polycystic kidney disease gene (PKD1). 7896286 1994
Entrez Id: 899
Gene Symbol: CCNF
CCNF 		0.010 GeneticVariation disease BEFREE A novel cyclin gene (CCNF) in the region of the polycystic kidney disease gene (PKD1). 7896286 1994
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease BEFREE A novel mutation of the PKD1 gene due to a nucleotide substitution in splice-acceptor site of IVS13 (AG->TG) was identified by analyses of PKD1-cDNA and genomic DNA. 10612835 2000
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 CausalMutation disease CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease BEFREE ADPKD is caused by mutations in the gene encoding either polycystic kidney disease 1 ( PKD1) or polycystic kidney disease 2 ( PKD2). 29475398 2018
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.300 GeneticVariation disease BEFREE ADPKD is caused by mutations in the gene encoding either polycystic kidney disease 1 ( PKD1) or polycystic kidney disease 2 ( PKD2). 29475398 2018
Entrez Id: 4846
Gene Symbol: NOS3
NOS3 		0.010 AlteredExpression disease BEFREE Although the D298 ENOS allele may be associated with lower vascular activity of eNOS, this did not correlate with severity of renal disease in this PKD1 population. 12500225 2003
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 GeneticVariation disease UNIPROT An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection. 9285784 1997
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease BEFREE Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. The American PKD1 Consortium (APKD1 Consortium). 7633406 1995
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.300 GeneticVariation disease BEFREE Annualized median liver growth rates were 1.68, 1.5 and 1.24% for PKD1-T, PKD1-NT and PKD2 mutations, respectively (P = 0.49), and remained unaffected by the ADPKD genotype when adjusted for age, gender and baseline HtLV. 26932689 2016
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		1.000 GeneticVariation disease UNIPROT Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. 12842373 2003
Entrez Id: 3039
Gene Symbol: HBA1
HBA1 		0.030 GeneticVariation disease BEFREE Autosomal dominant polycystic kidney disease (PKD1) is linked to the alpha-globin locus near the telomere of chromosome 16p. 1349580 1992
Entrez Id: 3040
Gene Symbol: HBA2
HBA2 		0.030 GeneticVariation disease BEFREE Autosomal dominant polycystic kidney disease (PKD1) is linked to the alpha-globin locus near the telomere of chromosome 16p. 1349580 1992
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.300 Biomarker disease BEFREE Autosomal dominant polycystic kidney disease (ADPKD) is a signalopathy of renal tubular epithelial cells caused by naturally occurring mutations in two distinct genes, polycystic kidney disease 1 (PKD1) and 2 (PKD2). 27199453 2016