NPHP3, nephrocystin 3, 27031
N. diseases: 93; N. variants: 33
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis. | 28921755 | 2017 | ||||||
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0.700 | GeneticVariation | UNIPROT | Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. | 12872122 | 2003 | |||||||
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0.700 | GeneticVariation | UNIPROT | Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. | 12872122 | 2003 | |||||||
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0.700 | GeneticVariation | UNIPROT | Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. | 12872122 | 2003 | |||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT |