PKD1, polycystin 1, transient receptor potential channel interacting, 5310
N. diseases: 217; N. variants: 201
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. | 26938784 | 2016 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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0.700 | 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 | |||||||
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0.700 | 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 | |||||||
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0.700 | GeneticVariation | UNIPROT | Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families. | 11857740 | 2002 | |||||||
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0.700 | 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 | |||||||
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0.700 | GeneticVariation | UNIPROT | Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease. | 10729710 | 2000 | |||||||
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0.700 | GeneticVariation | UNIPROT | Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease. | 10577909 | 1999 | |||||||
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0.700 | GeneticVariation | UNIPROT | Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene. | 10647901 | 1999 |