rs104894228, LRRC56;HRAS

N. diseases: 48
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: 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)
CUI: C0152013
Disease: 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)
CUI: C0152013
Disease: 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
CUI: C0281361
Disease: Adenocarcinoma of pancreas
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Adult Rhabdomyosarcoma
CUI: C0279550
Disease: 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
CUI: C1456781
Disease: 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
CUI: C0003811
Disease: 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
CUI: C0220611
Disease: 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
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Chronic Lymphocytic Leukemia
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Costello syndrome (disorder)
CUI: C0587248
Disease: 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)
CUI: C0587248
Disease: 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)
CUI: C0587248
Disease: 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)
CUI: C0587248
Disease: 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)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.830 GeneticVariation BEFREE Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C. 21438134 2011
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.830 GeneticVariation UNIPROT Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 16443854 2006
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.830 GeneticVariation UNIPROT Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316 2005
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.830 GeneticVariation UNIPROT Severe neonatal manifestations of Costello syndrome. 18039947 2008
Costello syndrome (disorder)
CUI: C0587248
Disease: 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)
CUI: C0587248
Disease: 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)
CUI: C0587248
Disease: 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)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.830 CausalMutation CLINVAR An unexpected new role of mutant Ras: perturbation of human embryonic development. 17211612 2007