Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
|
16329078 |
2006 |
Costello syndrome (disorder)
|
|
0.830 |
CausalMutation
|
CLINVAR |
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
|
16329078 |
2006 |
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
|
25173338 |
2014 |
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?
|
18247425 |
2008 |
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
|
17054105 |
2007 |
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
BEFREE |
We report on a premature male with Costello syndrome due to a rare G13C HRAS mutation and describe his clinical features and evolution during the first year of life.
|
19213030 |
2009 |
Cutaneous Melanoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Cutaneous Melanoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Cutaneous Melanoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Developmental delay (disorder)
|
|
0.010 |
GeneticVariation
|
BEFREE |
The individuals with p.G13C had many typical findings including polyhydramnios, failure-to-thrive, HCM, macrocephaly with posterior fossa crowding, and developmental delay.
|
21438134 |
2011 |
Dwarfism
|
|
0.010 |
GeneticVariation
|
BEFREE |
Fewer individuals with p.G13C had short stature (height below -2 SD) without use of growth hormone (P < 0.001).
|
21438134 |
2011 |
Eccrine porocarcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Hotspot HRAS mutations were identified in two poromas (p.G13R and p.Q61R) and one porocarcinoma (p.G13C).
|
29269125 |
2018 |
Eccrine porocarcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Hotspot HRAS mutations were identified in two poromas (p.G13R and p.Q61R) and one porocarcinoma (p.G13C).
|
29269125 |
2018 |
Gastric Adenocarcinoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Gastric Adenocarcinoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
GIANT PIGMENTED HAIRY NEVUS
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
Global developmental delay
|
|
0.010 |
GeneticVariation
|
BEFREE |
The individuals with p.G13C had many typical findings including polyhydramnios, failure-to-thrive, HCM, macrocephaly with posterior fossa crowding, and developmental delay.
|
21438134 |
2011 |
Leukemia, Myelocytic, Acute
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Leukemia, Myelocytic, Acute
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Liver carcinoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Liver carcinoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Malignant neoplasm of thyroid
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we show that depletion of RAF-1, a RAF family member with a poorly defined role in TC, decreases proliferation and increases apoptosis in TPC-1 cells and, less significantly, in cells harboring a BRAF(V600E) or HRAS(G13R) mutations, but without affecting ERK activation.
|
26265449 |
2015 |
Malignant neoplasm of urinary bladder
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
Malignant Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
Although some individuals with HRAS p.Gly13Asp developed papillomata and vascular proliferation lesions, no malignant tumors occurred, similar to what was reported for individuals harboring the HRAS p.Gly13Cys.
|
28371260 |
2017 |
Malignant Uterine Corpus Neoplasm
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |