Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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CA | 0.700 | CausalMutation | CLINVAR | Legius syndrome, an Update. Molecular pathology of mutations in SPRED1. | 24334617 | 2013 |
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CA | 0.700 | CausalMutation | CLINVAR | Review and update of SPRED1 mutations causing Legius syndrome. | 22753041 | 2012 |
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CA | 0.700 | CausalMutation | CLINVAR | Identification of five novel SPRED1 germline mutations in Legius syndrome. | 21649642 | 2011 |
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CA | 0.700 | CausalMutation | CLINVAR | Observations on intelligence and behavior in 15 patients with Legius syndrome. | 21495177 | 2011 |
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CA | 0.700 | CausalMutation | CLINVAR | Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR. | 21548021 | 2011 |
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CA | 0.700 | CausalMutation | CLINVAR | Legius syndrome in fourteen families. | 21089071 | 2011 |
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CA | 0.700 | CausalMutation | CLINVAR | SPRED 1 mutations in a neurofibromatosis clinic. | 20179001 | 2010 |
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CA | 0.700 | CausalMutation | CLINVAR | Does SPRED1 contribute to leukemogenesis in juvenile myelomonocytic leukemia (JMML)? | 20339110 | 2010 |
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CA | 0.700 | CausalMutation | CLINVAR | SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. | 19443465 | 2009 |
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CA | 0.700 | CausalMutation | CLINVAR | SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. | 19366998 | 2009 |
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CA | 0.700 | CausalMutation | CLINVAR | Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. | 19920235 | 2009 |
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CA | 0.700 | CausalMutation | CLINVAR | Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. | 17704776 | 2007 |
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CA | 0.700 | CausalMutation | CLINVAR | Spred is a Sprouty-related suppressor of Ras signalling. | 11493923 | 2001 |
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CA | 0.700 | CausalMutation | CLINVAR | Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. | 3128965 | 1988 |