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 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: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.600 GeneticVariation disease UNIPROT
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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 GeneticVariation disease BEFREE A polymorphism in the TC21 promoter associates with an unfavorable tamoxifen treatment outcome in breast cancer. 19047159 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 GeneticVariation group BEFREE TC21 is a Ras-like GTPase with high oncogenic potential that is found mutated in some human tumors and overexpressed in breast cancer cell lines. 10557073 1999
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 GeneticVariation disease BEFREE A polymorphism in the TC21 promoter associates with an unfavorable tamoxifen treatment outcome in breast cancer. 19047159 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 GeneticVariation disease BEFREE Thus, we conclude that mutations in TC21 are uncommon in breast carcinomas. 9703274 1998
CUI: C0023269
Disease: leiomyosarcoma
leiomyosarcoma 		0.020 GeneticVariation disease BEFREE TC21 is a ras family member that shares close homology to H-, K- and N-ras, and activating mutations have been found in ovarian carcinoma and leiomyosarcoma cell lines. 9703274 1998
CUI: C0023269
Disease: leiomyosarcoma
leiomyosarcoma 		0.020 GeneticVariation disease BEFREE A novel insertional mutation in the TC21 gene activates its transforming activity in a human leiomyosarcoma cell line. 7478545 1995
CUI: C0278607
Disease: Adult Leiomyosarcoma
Adult Leiomyosarcoma 		0.020 GeneticVariation disease BEFREE A novel insertional mutation in the TC21 gene activates its transforming activity in a human leiomyosarcoma cell line. 7478545 1995
CUI: C0278607
Disease: Adult Leiomyosarcoma
Adult Leiomyosarcoma 		0.020 GeneticVariation disease BEFREE TC21 is a ras family member that shares close homology to H-, K- and N-ras, and activating mutations have been found in ovarian carcinoma and leiomyosarcoma cell lines. 9703274 1998
CUI: C0279986
Disease: Childhood Leiomyosarcoma
Childhood Leiomyosarcoma 		0.020 GeneticVariation disease BEFREE A novel insertional mutation in the TC21 gene activates its transforming activity in a human leiomyosarcoma cell line. 7478545 1995
CUI: C0279986
Disease: Childhood Leiomyosarcoma
Childhood Leiomyosarcoma 		0.020 GeneticVariation disease BEFREE TC21 is a ras family member that shares close homology to H-, K- and N-ras, and activating mutations have been found in ovarian carcinoma and leiomyosarcoma cell lines. 9703274 1998
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.020 GeneticVariation group BEFREE We have examined panels of cDNAs from breast, ovarian and cervical cell lines, and primary and metastatic breast tumours for mutations in TC21 using a single-strand conformational polymorphism (SSCP)-based assay. 9703274 1998
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.020 GeneticVariation disease BEFREE Using the Illumina Human NS-12 single-nucleotide polymorphism (SNP) chip to screen for gene copy number changes in primary hepatocellular carcinomas (HCCs), we initially detected amplification of 35 genes from four genomic regions (1q21-41, 6p21.2-24.1, 7p13 and 8q13-23). 22912832 2012
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 GeneticVariation disease BEFREE The DCC rs17468382 and EPHB1 rs2030737 SNPs may be associated with increased PD risk, and the CHP rs6492998 and RRAS2 rs2970332 SNPs may be associated with reduced PD risk. 21085126 2011
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.010 GeneticVariation disease BEFREE Larvae overexpressing c.70_78dup (p.Gly24_Gly26dup) or c.216A>T (p.Gln72His) variants, but not wild-type RRAS2 RNAs, showed craniofacial defects and macrocephaly. 31130285 2019
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 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 Biomarker disease GENOMICS_ENGLAND