Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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G | 0.800 | CausalMutation | CLINVAR | Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature. | 27109146 | 2016 |
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G | 0.800 | CausalMutation | CLINVAR | Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. | 27101134 | 2016 |
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G | 0.800 | CausalMutation | CLINVAR | Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1). | 27226556 | 2016 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype. | 25959749 | 2016 |
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|
G | 0.800 | CausalMutation | CLINVAR | Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia. | 26757980 | 2016 |
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|
G | 0.800 | CausalMutation | CLINVAR | Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. | 26714497 | 2016 |
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|
G | 0.800 | CausalMutation | CLINVAR | Next-generation sequencing identifies rare variants associated with Noonan syndrome. | 25049390 | 2014 |
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G | 0.800 | CausalMutation | CLINVAR | Further evidence of the importance of RIT1 in Noonan syndrome. | 25124994 | 2014 |
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G | 0.800 | CausalMutation | CLINVAR | Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. | 23791108 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. | 23791108 | 2013 |
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|
G | 0.800 | CausalMutation | CLINVAR | Lichenoid tissue reaction (LTR) induced by local transfer of Ia-reactive T-cell clones. II. LTR by epidermal invasion of cytotoxic lymphokine-producing autoreactive T cells. | 2439608 | 1987 |