RASA2, RAS p21 protein activator 2, 5922

N. diseases: 116; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.510 Biomarker disease 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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.510 GermlineCausalMutation disease ORPHANET 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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.510 GeneticVariation disease BEFREE 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
CUI: C0025202
Disease: melanoma
melanoma 		0.330 AlteredExpression disease BEFREE We have shown that wild type RASA1, but not identified mutants, suppresses soft agar colony formation and tumor growth of BRAF mutated melanoma cell lines via its RasGAP activity toward R-Ras (related RAS viral (r-ras) oncogene homolog) isoform. 26993606 2016
CUI: C0025202
Disease: melanoma
melanoma 		0.330 GeneticVariation disease BEFREE Inactivating NF1 mutations were present in 46% of melanomas expressing wild-type BRAF and RAS, occurred in older patients and showed a distinct pattern of co-mutation with other RASopathy genes, particularly RASA2. 26214590 2015
CUI: C0025202
Disease: melanoma
melanoma 		0.330 Biomarker disease CTD_human These findings identify RASA2 inactivation as a melanoma driver and highlight the importance of RasGAPs in cancer. 26502337 2015
CUI: C0025202
Disease: melanoma
melanoma 		0.330 Biomarker disease CTD_human Inactivating NF1 mutations were present in 46% of melanomas expressing wild-type BRAF and RAS, occurred in older patients and showed a distinct pattern of co-mutation with other RASopathy genes, particularly RASA2. 26214590 2015
CUI: C0025202
Disease: melanoma
melanoma 		0.330 AlteredExpression disease BEFREE These findings identify RASA2 inactivation as a melanoma driver and highlight the importance of RasGAPs in cancer. 26502337 2015
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.300 Biomarker disease CLINGEN
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.300 Biomarker disease CLINGEN
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.300 Biomarker disease CLINGEN
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.300 Biomarker disease CLINGEN
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.300 Biomarker disease CLINGEN
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.110 GeneticVariation disease BEFREE In this study, we explored the interactions between candidate SNPs of RASA2 (rs16851483), CADM1 (rs12286929) and HIF1AN (rs17094222) and body fatness for breast cancer risk. 29228687 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.110 GeneticVariation disease GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. 29273807 2018
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci. 30108127 2018
CUI: C0037369
Disease: Smoking
Smoking 		0.100 GeneticVariation phenotype GWASCAT Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. 28443625 2017
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. 28443625 2017