RASA1, RAS p21 protein activator 1, 5921

N. diseases: 237; N. variants: 41
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853217
rs137853217
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C4747394
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 		0.800 GeneticVariation UNIPROT Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. 14639529 2003
dbSNP: rs137853217
rs137853217
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C4747394
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 		0.800 GeneticVariation UNIPROT RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. 24038909 2013
dbSNP: rs137853214
rs137853214
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C4721806
Disease:
Carcinoma, Basal Cell 		0.700 GeneticVariation UNIPROT
dbSNP: rs137853215
rs137853215
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C4721806
Disease:
Carcinoma, Basal Cell 		0.700 GeneticVariation UNIPROT
dbSNP: rs137853216
rs137853216
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C4721806
Disease:
Carcinoma, Basal Cell 		0.700 GeneticVariation UNIPROT
dbSNP: rs145752649
rs145752649
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C4747394
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 		0.700 GeneticVariation UNIPROT RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. 24038909 2013
dbSNP: rs145752649
rs145752649
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C4747394
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 		0.700 GeneticVariation UNIPROT Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. 14639529 2003
dbSNP: rs16902608
rs16902608
Entrez Id: 5921
Gene Symbol: RASA1
RASA1
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs16902608
rs16902608
Entrez Id: 5921
Gene Symbol: RASA1
RASA1
CUI: C0428474
Disease:
Serum LDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs373098580
rs373098580
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C4747394
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 		0.700 GeneticVariation UNIPROT RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. 24038909 2013
dbSNP: rs373098580
rs373098580
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C4747394
Disease:
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 		0.700 GeneticVariation UNIPROT Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. 14639529 2003
dbSNP: rs1490204625
rs1490204625
Entrez Id: 5921
Gene Symbol: RASA1
RASA1
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.020 GeneticVariation BEFREE These results reveal that KRAS G13D is responsive to neurofibromin-stimulated hydrolysis and suggest that a subset of <i>KRAS</i> G13-mutated colorectal cancers that are neurofibromin-competent may respond to EGFR therapies. 31611389 2019
dbSNP: rs1490204625
rs1490204625
Entrez Id: 5921
Gene Symbol: RASA1
RASA1
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.020 GeneticVariation BEFREE Recent evidence associates the codon 12 valine-for-glycine (G12V) mutant Ki-Ras protein with higher stage and increased lethality of colorectal carcinomas, while the codon 12 aspartate-for-glycine (G12D) Ras mutation shows no such association. 10398103 1999
dbSNP: rs1204340475
rs1204340475
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C0340803
Disease:
Capillary malformation (disorder) 		0.010 GeneticVariation BEFREE Sequence analysis of DNA extracted from a skin biopsy of a capillary malformation of the affected mother showed a second RASA1 somatic mutation (c.2245C>T, p.Arg749X). 26969842 2016
dbSNP: rs1490204625
rs1490204625
Entrez Id: 5921
Gene Symbol: RASA1
RASA1
CUI: C0346957
Disease:
Disseminated Malignant Neoplasm 		0.010 GeneticVariation BEFREE GTPase-impairing somatic mutations in RAS genes, such as KRAS(G12D), are among the most common oncogenic events in metastatic cancer. 26549032 2016
dbSNP: rs1490204625
rs1490204625
Entrez Id: 5921
Gene Symbol: RASA1
RASA1
CUI: C0027627
Disease:
Neoplasm Metastasis 		0.010 GeneticVariation BEFREE GTPase-impairing somatic mutations in RAS genes, such as KRAS(G12D), are among the most common oncogenic events in metastatic cancer. 26549032 2016
dbSNP: rs1490204625
rs1490204625
Entrez Id: 5921
Gene Symbol: RASA1
RASA1
CUI: C1961099
Disease:
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.010 GeneticVariation BEFREE KRAS(G12D) T-ALLs do not show constitutive GTP loading of Ras. 26549032 2016
dbSNP: rs1490204625
rs1490204625
Entrez Id: 5921
Gene Symbol: RASA1
RASA1
CUI: C2939419
Disease:
Secondary Neoplasm 		0.010 GeneticVariation BEFREE GTPase-impairing somatic mutations in RAS genes, such as KRAS(G12D), are among the most common oncogenic events in metastatic cancer. 26549032 2016
dbSNP: rs532587037
rs532587037
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C0242855
Disease:
Congenital atresia of pulmonary valve 		0.010 GeneticVariation BEFREE A heterozygous nucleotide change (c.793C>T) in exon 2 of the gene leading to the p.Pro265Ser variant at the carboxyl-terminus of the protein was found in two unrelated sporadic patients, one with classic anatomy and one with pulmonary atresia. 22713807 2013
dbSNP: rs532587037
rs532587037
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C0265908
Disease:
Congenital atresia of pulmonary artery 		0.010 GeneticVariation BEFREE A heterozygous nucleotide change (c.793C>T) in exon 2 of the gene leading to the p.Pro265Ser variant at the carboxyl-terminus of the protein was found in two unrelated sporadic patients, one with classic anatomy and one with pulmonary atresia. 22713807 2013
dbSNP: rs574202455
rs574202455
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C3711374
Disease:
Nonsyndromic Deafness 		0.010 GeneticVariation BEFREE Exome sequencing coupled with homozygosity mapping was used to identify a transition mutation (c.794T>C; p.Leu265Ser) in ELMOD3 at the DFNB88 locus that is associated with nonsyndromic deafness in a large Pakistani family, PKDF468. 24039609 2013
dbSNP: rs751563679
rs751563679
Entrez Id: 902;5921
Gene Symbol: CCNH;RASA1
CCNH;RASA1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.010 GeneticVariation BEFREE A non-sense mutation C2446T --> R816X of the neurofibromin gene has been detected in some patients with the neurofibromatosis 1-Noonan's syndrome phenotype. 12661943 2003
dbSNP: rs754945616
rs754945616
Entrez Id: 5921
Gene Symbol: RASA1
RASA1
CUI: C4551472
Disease:
Hypertrophic obstructive cardiomyopathy 		0.010 GeneticVariation BEFREE An infant with failure-to-thrive and hypertrophic cardiomyopathy had a novel de novo HRAS mutation (c.179G>T; p.Gly60Val). 28139825 2017
dbSNP: rs754945616
rs754945616
Entrez Id: 5921
Gene Symbol: RASA1
RASA1
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.010 GeneticVariation BEFREE An infant with failure-to-thrive and hypertrophic cardiomyopathy had a novel de novo HRAS mutation (c.179G>T; p.Gly60Val). 28139825 2017
dbSNP: rs754945616
rs754945616
Entrez Id: 5921
Gene Symbol: RASA1
RASA1
CUI: C0587248
Disease:
Costello syndrome (disorder) 		0.010 GeneticVariation BEFREE Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics. 28139825 2017