Adenocarcinoma of lung (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Adenocarcinoma of lung (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Adenocarcinoma of lung (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Adenocarcinoma of pancreas
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Adenocarcinoma of pancreas
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Adult Rhabdomyosarcoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Furthermore, the HRAS c.37G>C mutation has never been related to any type of rhabdomyosarcoma.
|
29430633 |
2018 |
Benign melanocytic nevus
|
|
0.010 |
GeneticVariation
|
BEFREE |
We present details of a neonate with extensive naevus sebaceus in whom we identified a pathogenic mutation in HRAS (c.37G > C; p.Gly13Arg), but only in lesional skin DNA, consistent with a mosaic RASopathy.
|
26400620 |
2017 |
Cardiac Arrhythmia
|
|
0.010 |
GeneticVariation
|
BEFREE |
The two patients with 35G --> C had cardiac arrhythmias whereas one patient with a 37G --> T transversion had an enlarged aortic root.
|
16372351 |
2006 |
Childhood Rhabdomyosarcoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Furthermore, the HRAS c.37G>C mutation has never been related to any type of rhabdomyosarcoma.
|
29430633 |
2018 |
Chronic Lymphocytic Leukemia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Chronic Lymphocytic Leukemia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Colorectal Neoplasms
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Colorectal Neoplasms
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Costello syndrome (disorder)
|
|
0.830 |
CausalMutation
|
CLINVAR |
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.
|
21850009 |
2011 |
Costello syndrome (disorder)
|
|
0.830 |
CausalMutation
|
CLINVAR |
HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.
|
16372351 |
2006 |
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.
|
19995790 |
2010 |
Costello syndrome (disorder)
|
|
0.830 |
CausalMutation
|
CLINVAR |
To test the hypothesis that subtle genotype-phenotype differences exist, we report the first cohort comparison between 12 Costello syndrome individuals with p.G13C and individuals with p.G12S.
|
21438134 |
2011 |
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
BEFREE |
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
|
21438134 |
2011 |
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
|
16443854 |
2006 |
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
|
16170316 |
2005 |
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Severe neonatal manifestations of Costello syndrome.
|
18039947 |
2008 |
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
BEFREE |
Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation.
|
28337834 |
2017 |
Costello syndrome (disorder)
|
|
0.830 |
CausalMutation
|
CLINVAR |
A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.
|
23093928 |
2012 |
Costello syndrome (disorder)
|
|
0.830 |
CausalMutation
|
CLINVAR |
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
|
18042262 |
2008 |
Costello syndrome (disorder)
|
|
0.830 |
CausalMutation
|
CLINVAR |
An unexpected new role of mutant Ras: perturbation of human embryonic development.
|
17211612 |
2007 |