Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
0.100 GeneticVariation disease BEFREE Further study showed that the phosphoglycolate phosphatase locus is also closely linked to both the locus for adult polycystic kidney disease and the alpha globin gene cluster. 3008903 1986
Entrez Id: 283871
Gene Symbol: PGP
PGP
0.040 GeneticVariation disease BEFREE Further study showed that the phosphoglycolate phosphatase locus is also closely linked to both the locus for adult polycystic kidney disease and the alpha globin gene cluster. 3008903 1986
Entrez Id: 3040
Gene Symbol: HBA2
HBA2
0.100 GeneticVariation disease BEFREE No evidence was found to suggest heterogeneity of genetic linkage between alpha-globin and the APKD locus in this population. 3610154 1987
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
0.100 GeneticVariation disease BEFREE No evidence was found to suggest heterogeneity of genetic linkage between alpha-globin and the APKD locus in this population. 3610154 1987
Entrez Id: 283871
Gene Symbol: PGP
PGP
0.040 GeneticVariation disease BEFREE The mutation for adult polycystic kidney disease (APKD) has previously been localised to chromosome 16 by the demonstration of genetic linkage with the loci for the alpha-chain of haemoglobin and phosphoglycolate phosphatase. 3610154 1987
Entrez Id: 3105
Gene Symbol: HLA-A
HLA-A
0.010 GeneticVariation disease BEFREE Four multiplex families affected with adult polycystic kidney disease were investigated for segregation of the disease with haplotypes bearing HLA-A and B antigens and Bf allotypes. 6958086 1982
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.900 GeneticVariation disease BEFREE Twenty families with autosomal dominant polycystic kidney disease from S. W. Thames Region were analysed using markers for chromosome 16p13.3, the site of the common mutation (PKD1). 7554361 1995
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.900 Biomarker disease CTD_human A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family. 7581371 1995
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.900 GeneticVariation disease BEFREE A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family. 7581371 1995
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.900 GeneticVariation disease BEFREE Using antibodies raised against the predicted gene product of PKD1, which is mutated in about 85% of ADPKD cases, we show that PKD1 is a 530-kD protein localized to the extracellular matrix of kidney, liver and cerebral blood vessels. 7585067 1995
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.900 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: 7373
Gene Symbol: COL14A1
COL14A1
0.010 AlteredExpression disease BEFREE Immunohistochemically subepithelial fibrous tissue of cyst walls in ADPKD kidneys showed strong coexpression of both undulin and tenascin with marked intensity adjacent to cyst-lining epithelium. 7692313 1993
Entrez Id: 3371
Gene Symbol: TNC
TNC
0.010 AlteredExpression disease BEFREE Immunohistochemically subepithelial fibrous tissue of cyst walls in ADPKD kidneys showed strong coexpression of both undulin and tenascin with marked intensity adjacent to cyst-lining epithelium. 7692313 1993
Entrez Id: 5111
Gene Symbol: PCNA
PCNA
0.020 Biomarker disease BEFREE In this study, which used immunohistochemical methods with an antibody to proliferating cell nuclear antigen (PCNA), the proliferation index (PI) (percentage of PCNA positive cell nuclei among epithelial cells lining the renal cysts) was determined in 10 cases of autosomal dominant polycystic kidney disease (ADPKD), 8 cases of autosomal recessive polycystic kidney disease (ARPKD), and 8 cases of acquired cystic kidney disease (ACKD). 7703384 1995
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.900 GeneticVariation disease BEFREE Mutations in the PKD1 gene are the most common cause of autosomal dominant polycystic kidney disease (ADPKD). 7736581 1995
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.900 GeneticVariation disease BEFREE Haplotype analysis was performed in 35 autosomal dominant polycystic kidney disease (ADPKD) families typed with 13 markers close to the PKD1 locus. 7783171 1995
Entrez Id: 5972
Gene Symbol: REN
REN
0.100 Biomarker disease BEFREE During chronically higher sodium intake, serum ANP was significantly higher (median 130 vs. 81 ng/liter, P = 0.0006) and plasma renin tended to be higher (median 20.5 vs. 13.5, P = 0.08) in ADPKD than in control subjects. 7861706 1994
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.900 GeneticVariation disease BEFREE Analysis of the deletions indicates that they inactivate PKD1, in contrast to the mutations reported in ADPKD patients, where in each case abnormal transcripts have been detected. 7894481 1994
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
0.100 Biomarker disease BEFREE Major genes which cause tuberous sclerosis (TSC) and autosomal dominant polycystic kidney disease (ADPKD), known as TSC2 and PKD1 respectively, lie immediately adjacent to each other on chromosome 16p. 7894481 1994
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.900 GeneticVariation disease BEFREE Although most mutations causing ADPKD in European populations have been mapped to the PKD1 locus on chromosome 16, some of them appear to be unlinked to this locus. 7905535 1993
Entrez Id: 5972
Gene Symbol: REN
REN
0.100 Biomarker disease BEFREE In autosomal dominant polycystic kidney disease 1) the genetic localization of the defective gene that causes type 1 disease has been narrowed to 500 to 750 kb on chromosome 16; 2) cystogenesis has been associated with increased cell proliferation, continuing cyst secretion, and a defect in cell polarity; however, the mechanisms by which the genetic defects in autosomal dominant polycystic kidney disease translate into cyst formation are unknown; 3) activation of the renin system has been reported as an important potential cause of hypertension; and 4) factors that influence the progression to renal failure have been identified. 7922177 1993
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.900 GeneticVariation disease BEFREE Genetic analysis of Cuban autosomal dominant polycystic kidney disease kindreds using RFLPs and microsatellite polymorphisms linked to the PKD1 locus. 7927343 1994
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.900 Biomarker disease CTD_human We identified a chromosome translocation associated with ADPKD that disrupts a gene (PBP) encoding a 14 kb transcript in the PKD1 candidate region. 8004675 1994
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.900 Biomarker disease CLINGEN We identified a chromosome translocation associated with ADPKD that disrupts a gene (PBP) encoding a 14 kb transcript in the PKD1 candidate region. 8004675 1994
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.900 GeneticVariation disease BEFREE We identified a chromosome translocation associated with ADPKD that disrupts a gene (PBP) encoding a 14 kb transcript in the PKD1 candidate region. 8004675 1994