| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | A Novel Missense Mutation in FLT4 Causes Autosomal Recessive Hereditary Lymphedema. | 26091405 | 2015 |
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|
0.800 | GeneticVariation | UNIPROT | Recessive primary congenital lymphoedema caused by a VEGFR3 mutation. | 19289394 | 2009 |
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|
0.800 | GeneticVariation | UNIPROT | A novel VEGFR3 mutation causes Milroy disease. | 17458866 | 2007 |
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|
0.800 | GeneticVariation | UNIPROT | Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations. | 16965327 | 2006 |
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|
0.800 | GeneticVariation | UNIPROT | Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3. | 16924388 | 2006 |
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|
0.800 | GeneticVariation | UNIPROT | Activation of vascular endothelial growth factor receptor-3 and its downstream signaling promote cell survival under oxidative stress. | 15102829 | 2004 |
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|
0.800 | GeneticVariation | UNIPROT | Ligand-induced vascular endothelial growth factor receptor-3 (VEGFR-3) heterodimerization with VEGFR-2 in primary lymphatic endothelial cells regulates tyrosine phosphorylation sites. | 12881528 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema. | 10835628 | 2000 |
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|
0.800 | GeneticVariation | UNIPROT | Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. | 10856194 | 2000 |
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|
0.800 | GeneticVariation | UNIPROT | Hereditary lymphedema: evidence for linkage and genetic heterogeneity. | 9817924 | 1998 |
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|
T | 0.800 | CausalMutation | CLINVAR |