Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
POLYCYSTIC KIDNEY DISEASE 1
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
0.810 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007 2009
POLYCYSTIC KIDNEY DISEASE 1
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
0.810 GeneticVariation BEFREE With the exception of one mutation (L845S in PKD1), all mutations were novel. 15772804 2005
POLYCYSTIC KIDNEY DISEASE 1
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
0.810 GeneticVariation UNIPROT Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients. 12007219 2002
POLYCYSTIC KIDNEY DISEASE 1
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
0.810 GeneticVariation UNIPROT Mutation screening of the PKD1 transcript by RT-PCR. 12070253 2002
POLYCYSTIC KIDNEY DISEASE 1
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
0.810 GeneticVariation UNIPROT Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease. 12220456 2002
POLYCYSTIC KIDNEY DISEASE 1
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
0.810 GeneticVariation UNIPROT Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families. 11857740 2002
POLYCYSTIC KIDNEY DISEASE 1
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
0.810 GeneticVariation UNIPROT A complete mutation screen of the ADPKD genes by DHPLC. 11967008 2002
POLYCYSTIC KIDNEY DISEASE 1
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
0.810 GeneticVariation 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
POLYCYSTIC KIDNEY DISEASE 1
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
0.810 GeneticVariation UNIPROT Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family. 11558899 2001
POLYCYSTIC KIDNEY DISEASE 1
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
0.810 GeneticVariation UNIPROT Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families. 11571556 2001
POLYCYSTIC KIDNEY DISEASE 1
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
0.810 GeneticVariation UNIPROT Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion. 11216660 2000
POLYCYSTIC KIDNEY DISEASE 1
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
0.810 GeneticVariation UNIPROT Thirteen novel mutations of the replicated region of PKD1 in an Asian population. 11012875 2000
POLYCYSTIC KIDNEY DISEASE 1
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
0.810 GeneticVariation UNIPROT Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease. 10729710 2000
POLYCYSTIC KIDNEY DISEASE 1
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
0.810 GeneticVariation UNIPROT Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene. 10647901 1999
POLYCYSTIC KIDNEY DISEASE 1
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
0.810 GeneticVariation UNIPROT Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease. 10577909 1999
POLYCYSTIC KIDNEY DISEASE 1
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
0.810 GeneticVariation UNIPROT Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR. 10364515 1999
POLYCYSTIC KIDNEY DISEASE 1
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
0.810 GeneticVariation UNIPROT DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients. 10987650 1999
POLYCYSTIC KIDNEY DISEASE 1
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
0.810 GeneticVariation UNIPROT Mutational analysis within the 3' region of the PKD1 gene. 10200984 1999
POLYCYSTIC KIDNEY DISEASE 1
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
0.810 GeneticVariation UNIPROT Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene. 9521593 1998
POLYCYSTIC KIDNEY DISEASE 1
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
0.810 GeneticVariation UNIPROT Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease. 9259200 1997
POLYCYSTIC KIDNEY DISEASE 1
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
0.810 GeneticVariation UNIPROT Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations. 8554072 1996
POLYCYSTIC KIDNEY DISEASE 1
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
0.810 CausalMutation CLINVAR