Noonan Syndrome
|
0.620 |
Biomarker
|
disease |
CLINGEN |
We show that the NS-causing RRAS2 variants affect highly conserved residues localized around the nucleotide binding pocket of the GTPase and are predicted to variably affect diverse aspects of RRAS2 biochemical behavior, including nucleotide binding, GTP hydrolysis, and interaction with effectors.
|
31130282 |
2019 |
Noonan Syndrome
|
0.620 |
Biomarker
|
disease |
CLINGEN |
Here, we report four de novo RRAS2 variants in three individuals with NS.
|
31130285 |
2019 |
Noonan Syndrome
|
0.620 |
GeneticVariation
|
disease |
BEFREE |
Here, we report four de novo RRAS2 variants in three individuals with NS.
|
31130285 |
2019 |
Noonan Syndrome
|
0.620 |
GeneticVariation
|
disease |
BEFREE |
We show that the NS-causing RRAS2 variants affect highly conserved residues localized around the nucleotide binding pocket of the GTPase and are predicted to variably affect diverse aspects of RRAS2 biochemical behavior, including nucleotide binding, GTP hydrolysis, and interaction with effectors.
|
31130282 |
2019 |
Noonan Syndrome
|
0.620 |
GermlineCausalMutation
|
disease |
ORPHANET |
Here, we report four de novo RRAS2 variants in three individuals with NS.
|
31130285 |
2019 |
Noonan Syndrome
|
0.620 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.
|
24705357 |
2014 |
Malignant neoplasm of ovary
|
0.600 |
CausalMutation
|
disease |
CGI |
|
|
|
Malignant neoplasm of ovary
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Malignant neoplasm of ovary
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
Ovarian Carcinoma
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Ovarian Carcinoma
|
0.500 |
CausalMutation
|
disease |
CGI |
|
|
|
ovarian neoplasm
|
0.400 |
CausalMutation
|
disease |
CGI |
|
|
|
ovarian neoplasm
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Juvenile Myelomonocytic Leukemia
|
0.300 |
Biomarker
|
disease |
CTD_human |
The genomic landscape of juvenile myelomonocytic leukemia.
|
26457647 |
2015 |
Hepatoma, Morris
|
0.300 |
Biomarker
|
disease |
CTD_human |
Gene expression and mutation assessment provide clues of genetic and epigenetic mechanisms in liver tumors of oxazepam-exposed mice.
|
21147764 |
2011 |
Hepatoma, Novikoff
|
0.300 |
Biomarker
|
disease |
CTD_human |
Gene expression and mutation assessment provide clues of genetic and epigenetic mechanisms in liver tumors of oxazepam-exposed mice.
|
21147764 |
2011 |
Liver Neoplasms, Experimental
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Gene expression and mutation assessment provide clues of genetic and epigenetic mechanisms in liver tumors of oxazepam-exposed mice.
|
21147764 |
2011 |
Experimental Hepatoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Gene expression and mutation assessment provide clues of genetic and epigenetic mechanisms in liver tumors of oxazepam-exposed mice.
|
21147764 |
2011 |
Neoplasm of uncertain or unknown behavior of ovary
|
0.300 |
CausalMutation
|
disease |
CGI |
|
|
|
Carcinoma, Ovarian Epithelial
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
Waist-Hip Ratio
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
Vitamin D3 measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.
|
28757204 |
2017 |
Vitamin D measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.
|
28757204 |
2017 |
Noonan Syndrome 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|