Source: ALL
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Genetic screening in adolescents with steroid-resistant nephrotic syndrome. | 23515051 | 2013 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | WT1 gene mutations in Chinese children with early onset nephrotic syndrome. | 20442690 | 2010 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. | 9499425 | 1998 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. | 1302008 | 1992 |