Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894365
rs104894365
KRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.720 CausalMutation CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581

2018
dbSNP: rs104894365
rs104894365
KRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.720 GeneticVariation BEFREE K-Ras(V14I) -induced Noonan syndrome predisposes to tumour development in mice. 27174785

2016
dbSNP: rs104894365
rs104894365
KRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.720 CausalMutation CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621

2011
dbSNP: rs104894365
rs104894365
KRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.720 CausalMutation CLINVAR Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature. 18958496

2009
dbSNP: rs104894365
rs104894365
KRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.720 CausalMutation CLINVAR PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 19020799

2008
dbSNP: rs104894365
rs104894365
KRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.720 CausalMutation CLINVAR Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. 17704260

2007
dbSNP: rs104894365
rs104894365
KRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.720 GeneticVariation BEFREE Noonan syndrome-associated mutations V14I and T58I K-Ras activate Ras but have milder biochemical effects than somatic mutations encountered in cancers, offering an explanation why these K-Ras lesions are tolerated during embryonic development. 17211612

2007
dbSNP: rs104894365
rs104894365
KRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.720 CausalMutation CLINVAR Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 17056636

2007
dbSNP: rs104894365
rs104894365
KRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.720 CausalMutation CLINVAR We discovered de novo germline KRAS mutations that introduce V14I, T58I or D153V amino acid substitutions in five individuals with Noonan syndrome and a P34R alteration in a individual with cardio-facio-cutaneous syndrome (MIM 115150), which has overlapping features with Noonan syndrome. 16474405

2006