Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. | 21236492 | 2011 |
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|
0.800 | GeneticVariation | UNIPROT | A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. | 21236492 | 2011 |
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|
0.800 | GeneticVariation | UNIPROT | Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. | 20798252 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. | 20798252 | 2010 |
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|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
0.700 | GeneticVariation | UNIPROT | A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. | 21236492 | 2011 |
||||
|
0.700 | GeneticVariation | UNIPROT | A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. | 21236492 | 2011 |
||||
|
0.700 | GeneticVariation | UNIPROT | Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. | 20798252 | 2010 |
||||
|
0.700 | GeneticVariation | UNIPROT | Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. | 20798252 | 2010 |
||||
|
T | 0.700 | GeneticVariation | CLINVAR | Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. | 20556798 | 2010 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
GC | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR |