| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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A | 0.800 | CausalMutation | CLINVAR | NLRP7 inter-domain interactions: the NACHT-associated domain is the physical mediator for oligomeric assembly. | 25082979 | 2014 | ||||||
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A | 0.800 | CausalMutation | CLINVAR | Histopathological features of biparental complete hydatidiform moles in women with NLRP7 mutations. | 23201303 | 2013 | ||||||
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A | 0.800 | CausalMutation | CLINVAR | Mutations in NLRP7 are associated with diploid biparental hydatidiform moles, but not androgenetic complete moles. | 22315435 | 2012 | ||||||
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|
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A | 0.800 | CausalMutation | CLINVAR | An NLRP7-containing inflammasome mediates recognition of microbial lipopeptides in human macrophages. | 22361007 | 2012 | ||||||
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A | 0.800 | CausalMutation | CLINVAR | NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage. | 21659348 | 2011 | ||||||
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A | 0.800 | CausalMutation | CLINVAR | Homozygous NLRP7 mutations in a Moroccan woman with recurrent reproductive failure. | 19054016 | 2009 | ||||||
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A | 0.800 | CausalMutation | CLINVAR | Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region. | 19246479 | 2009 | ||||||
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A | 0.800 | CausalMutation | CLINVAR | Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. | 16462743 | 2006 | ||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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|
0.800 | GeneticVariation | UNIPROT | ||||||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | ||||||||||
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0.800 | GeneticVariation | UNIPROT | ||||||||||
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0.800 | GeneticVariation | UNIPROT | ||||||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | GWASCAT | Co-regulatory networks of human serum proteins link genetics to disease. | 30072576 | 2018 | ||||||
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C | 0.700 | GeneticVariation | GWASCAT | Genomic atlas of the human plasma proteome. | 29875488 | 2018 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | The p.L750V mutation in the NLRP7 gene is frequent in Mexican patients with recurrent molar pregnancies and is not associated with recurrent pregnancy loss. | 23354651 | 2013 | ||||||
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|
C | 0.700 | CausalMutation | CLINVAR | NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation. | 19066229 | 2009 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles. | 18039680 | 2008 | ||||||
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|
T | 0.700 | CausalMutation | 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 |