rs104894228, LRRC56;HRAS

N. diseases: 48
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.830 GeneticVariation UNIPROT Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype? 18247425 2008
Costello syndrome (disorder)
CUI: C0587248
Disease: 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
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.710 CausalMutation CLINVAR Phase II trial of sorafenib in metastatic thyroid cancer. 19255327 2009
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.710 CausalMutation CLINVAR Phase II trial of sorafenib in metastatic thyroid cancer. 19255327 2009
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.710 CausalMutation CLINVAR Beneficial effects of sorafenib on tumor progression, but not on radioiodine uptake, in patients with differentiated thyroid carcinoma. 19773371 2009
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.710 CausalMutation CLINVAR Beneficial effects of sorafenib on tumor progression, but not on radioiodine uptake, in patients with differentiated thyroid carcinoma. 19773371 2009
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 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 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
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 CausalMutation CLINVAR Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C. 21438134 2011
Developmental delay (disorder)
CUI: C0424605
Disease: 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
CUI: C0013336
Disease: 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
Global developmental delay
CUI: C0557874
Disease: 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
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
Nevus Sebaceus of Jadassohn
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
0.800 GeneticVariation UNIPROT Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. 22683711 2012
Organoid Nevus Phakomatosis
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
0.710 GeneticVariation BEFREE Mosaicism for HRAS c.37G>C and KRAS c.35G>A mutations was found in two individuals with Schimmelpenning syndrome. 22683711 2012
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.010 GeneticVariation BEFREE The HRAS c.37G>C mutation was also found in 8 of 8 associated secondary tumors. 22683711 2012
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.710 CausalMutation CLINVAR Selumetinib-enhanced radioiodine uptake in advanced thyroid cancer. 23406027 2013
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.710 CausalMutation CLINVAR Selumetinib-enhanced radioiodine uptake in advanced thyroid cancer. 23406027 2013
Nevus sebaceous
CUI: C3854181
Disease: Nevus sebaceous
0.700 CausalMutation CLINVAR Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus. 23096712 2013
Costello syndrome (disorder)
CUI: C0587248
Disease: 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
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.710 GeneticVariation BEFREE Using next-generation sequencing techniques, we were able to identify the same HRAS G13R mutation within both components of the tumor, and to show the absence of additional mutated modifier genes in a panel of 300 cancer-related genes. 24628623 2014
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.710 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014