RRAS2, RAS related 2, 22800

N. diseases: 48; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.620 Biomarker disease CLINGEN We show that the NS-causing RRAS2 variants affect highly conserved residues localized around the nucleotide binding pocket of the GTPase and are predicted to variably affect diverse aspects of RRAS2 biochemical behavior, including nucleotide binding, GTP hydrolysis, and interaction with effectors. 31130282 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.620 Biomarker disease CLINGEN Here, we report four de novo RRAS2 variants in three individuals with NS. 31130285 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.620 GeneticVariation disease BEFREE Here, we report four de novo RRAS2 variants in three individuals with NS. 31130285 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.620 GeneticVariation disease BEFREE We show that the NS-causing RRAS2 variants affect highly conserved residues localized around the nucleotide binding pocket of the GTPase and are predicted to variably affect diverse aspects of RRAS2 biochemical behavior, including nucleotide binding, GTP hydrolysis, and interaction with effectors. 31130282 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.620 GermlineCausalMutation disease ORPHANET Here, we report four de novo RRAS2 variants in three individuals with NS. 31130285 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.620 Biomarker disease GENOMICS_ENGLAND Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis. 24705357 2014
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.600 CausalMutation disease CGI
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.600 GeneticVariation disease UNIPROT
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma 		0.500 CausalMutation disease CGI
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.400 CausalMutation disease CGI
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.400 CausalMutation disease CLINVAR
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.300 Biomarker disease CTD_human The genomic landscape of juvenile myelomonocytic leukemia. 26457647 2015
CUI: C0019207
Disease: Hepatoma, Morris
Hepatoma, Morris 		0.300 Biomarker disease CTD_human Gene expression and mutation assessment provide clues of genetic and epigenetic mechanisms in liver tumors of oxazepam-exposed mice. 21147764 2011
CUI: C0019208
Disease: Hepatoma, Novikoff
Hepatoma, Novikoff 		0.300 Biomarker disease CTD_human Gene expression and mutation assessment provide clues of genetic and epigenetic mechanisms in liver tumors of oxazepam-exposed mice. 21147764 2011
CUI: C0023904
Disease: Liver Neoplasms, Experimental
Liver Neoplasms, Experimental 		0.300 Biomarker phenotype CTD_human Gene expression and mutation assessment provide clues of genetic and epigenetic mechanisms in liver tumors of oxazepam-exposed mice. 21147764 2011
CUI: C0086404
Disease: Experimental Hepatoma
Experimental Hepatoma 		0.300 Biomarker disease CTD_human Gene expression and mutation assessment provide clues of genetic and epigenetic mechanisms in liver tumors of oxazepam-exposed mice. 21147764 2011
CUI: C0496920
Disease: Neoplasm of uncertain or unknown behavior of ovary
Neoplasm of uncertain or unknown behavior of ovary 		0.300 CausalMutation disease CGI
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0523979
Disease: Vitamin D3 measurement
Vitamin D3 measurement 		0.100 GeneticVariation phenotype GWASCAT Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis. 28757204 2017
CUI: C0919758
Disease: Vitamin D measurement
Vitamin D measurement 		0.100 GeneticVariation phenotype GWASCAT Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis. 28757204 2017
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.100 CausalMutation disease CLINVAR