| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | GeneticVariation | disease | 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 | ||||
|
1.000 | GeneticVariation | disease | UNIPROT | This led us to review the medical histories on a cohort of proven HRAS mutation positive Costello syndrome patients, and we found a statistically significantly (P < 0.001) increased frequency of pyloric stenosis in Costello syndrome (5/58) compared to the general population frequency of 2-3/1,000. | 18247425 | 2008 | ||||
|
1.000 | GeneticVariation | disease | UNIPROT | HRAS mutation analysis has been undertaken in 74 predominantly British patients with a possible diagnosis of CS. | 18039947 | 2008 | ||||
|
1.000 | GeneticVariation | disease | UNIPROT | A de novo heterozygous HRAS change was detected in all the subjects diagnosed with CS, while no lesion was observed with any of the other phenotypes. | 17054105 | 2007 | ||||
|
1.000 | GeneticVariation | disease | UNIPROT | However, some patients carrying HRAS mutations may exhibit prominent congenital muscular dysfunction, although features of CS may be less obvious, suggesting that germline HRAS mutations may underlie some cases of otherwise unclassified neonatal neuromuscular disorders. | 17412879 | 2007 | ||||
|
1.000 | GeneticVariation | disease | UNIPROT | These results confirm that CS is caused, in most cases, by heterozygous missense mutations in the proto-oncogene HRAS. | 16443854 | 2006 | ||||
|
1.000 | GeneticVariation | disease | UNIPROT | Five different HRAS mutations have now been reported in Costello syndrome, however genotype-phenotype correlation remains incomplete. | 16329078 | 2006 | ||||
|
1.000 | GeneticVariation | disease | UNIPROT | Germline mutations in HRAS proto-oncogene cause Costello syndrome. | 16170316 | 2005 |