rs104894228, LRRC56;HRAS

N. diseases: 48
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
GIANT PIGMENTED HAIRY NEVUS
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
0.700 CausalMutation CLINVAR
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
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 CausalMutation CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581 2018
SPITZ NEVUS, SOMATIC
CUI: C4225656
Disease: SPITZ NEVUS, SOMATIC
0.700 CausalMutation CLINVAR
NEVUS, EPIDERMAL (disorder)
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
0.700 CausalMutation CLINVAR
THYROID CANCER, NONMEDULLARY, 2
CUI: C4225426
Disease: THYROID CANCER, NONMEDULLARY, 2
0.700 CausalMutation CLINVAR
Malignant neoplasm of urinary bladder
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
0.700 CausalMutation CLINVAR
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 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 GeneticVariation UNIPROT HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. 16329078 2006
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
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 UNIPROT Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. 17054105 2007
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
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
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
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
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
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.710 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
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016