| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension. | 28507310 | 2017 |
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|
0.700 | GeneticVariation | UNIPROT | Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension. | 24936649 | 2014 |
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|
0.700 | GeneticVariation | UNIPROT | Functional changes in pulmonary arterial endothelial cells associated with BMPR2 mutations. | 25187962 | 2014 |
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|
0.700 | GeneticVariation | UNIPROT | BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension. | 15965979 | 2005 |
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|
0.700 | GeneticVariation | UNIPROT | BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives. | 12358323 | 2002 |
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|
0.700 | GeneticVariation | UNIPROT | BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. | 11115378 | 2001 |
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|
0.700 | GeneticVariation | UNIPROT | Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family. | 11015450 | 2000 |
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|
0.700 | GeneticVariation | UNIPROT | Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. | 10973254 | 2000 |
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|
0.700 | GeneticVariation | UNIPROT | Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. | 10903931 | 2000 |