| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. | 26673778 | 2016 |
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|
C | 0.700 | CausalMutation | CLINVAR | Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. | 23559409 | 2013 |
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|
C | 0.700 | CausalMutation | CLINVAR | Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. | 20007846 | 2010 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutations of NPHP2 and NPHP3 in infantile nephronophthisis. | 19177160 | 2009 |
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|
A | 0.700 | CausalMutation | CLINVAR | Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3. | 19303681 | 2009 |
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|
C | 0.700 | CausalMutation | CLINVAR | Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. | 18371931 | 2008 |
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|
T | 0.700 | CausalMutation | CLINVAR | Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. | 12872122 | 2003 |
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|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
TG | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
AT | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR |