| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.710 | GeneticVariation | BEFREE | Our findings indicated that miR-195 inhibited WT and L613V RAF-1 induced hyperactive osteoblast differentiation in MC3T3-E1 cells by targeting RAF-1. miR-195 might be a novel therapeutic agent for the treatment of L613V-induced bone deformity in Noonan syndrome. | 29197556 | 2018 |
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|
C | 0.710 | CausalMutation | CLINVAR | Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants. | 22826437 | 2012 |
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|
C | 0.710 | CausalMutation | CLINVAR | Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. | 20052757 | 2010 |
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|
C | 0.710 | CausalMutation | CLINVAR | Impact of feedback phosphorylation and Raf heterodimerization on normal and mutant B-Raf signaling. | 19933846 | 2010 |
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|
C | 0.710 | CausalMutation | CLINVAR | Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. | 19953625 | 2010 |
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|
C | 0.710 | CausalMutation | CLINVAR | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | 17603483 | 2007 |
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|
C | 0.710 | GeneticVariation | CLINVAR | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 |
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|
C | 0.710 | CausalMutation | CLINVAR | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 |
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|
C | 0.710 | GeneticVariation | CLINVAR | A GaN bulk crystal with improved structural quality grown by the ammonothermal method. | 17603489 | 2007 |