BMPR1A, bone morphogenetic protein receptor type 1A, 657
N. diseases: 203; N. variants: 102
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. | 11536076 | 2001 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. | 12417513 | 2002 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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GA | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. | 11381269 | 2001 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. | 23399955 | 2013 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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AT | 0.700 | CausalMutation | CLINVAR | |||||||||
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CG | 0.700 | CausalMutation | CLINVAR | |||||||||
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TA | 0.700 | CausalMutation | CLINVAR | |||||||||
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CTATT | 0.700 | CausalMutation | CLINVAR | |||||||||
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AC | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | SP1 regulates the transcription of BMPR1A. | 21872883 | 2011 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome. | 22067610 | 2012 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis. | 20843829 | 2010 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR |