Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.680 Biomarker CLINGEN Taken together, our findings demonstrate that mutations in MAP2K1, which are frequently associated with neurological complications and intellectual disability, can be associated with a milder clinical and neurocognitive profile more typical of individuals with Noonan syndrome. 27862862

2017
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.680 Biomarker CLINGEN Expression of the mutant RASA2, MAP2K1, or RIT1 alleles in heterologous cells increased RAS-ERK pathway activation, supporting a causative role in NS pathogenesis. 25049390

2014
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.680 Biomarker CLINGEN The RASopathies. 23875798

2013
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.680 Biomarker CLINGEN Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. 23321623

2013
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.680 Biomarker CLINGEN 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