rs121434596, NRAS

N. diseases: 26
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
0.810 CausalMutation CLINVAR
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
0.800 CausalMutation CLINVAR
Noonan Syndrome 6
CUI: C2750732
Disease: Noonan Syndrome 6
0.700 CausalMutation CLINVAR
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680 1989
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680 1989
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680 1989
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Ras mutations in human melanoma: a marker of malignant progression. 8120410 1994
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Ras mutations in human melanoma: a marker of malignant progression. 8120410 1994
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Ras mutations in human melanoma: a marker of malignant progression. 8120410 1994
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Distinct sets of genetic alterations in melanoma. 16291983 2005
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Distinct sets of genetic alterations in melanoma. 16291983 2005
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Distinct sets of genetic alterations in melanoma. 16291983 2005
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
0.810 GeneticVariation UNIPROT Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. 17332249 2007
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
0.800 GeneticVariation UNIPROT NRAS mutation causes a human autoimmune lymphoproliferative syndrome. 17517660 2007
Autoimmune Lymphoproliferative Syndrome
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
0.020 GeneticVariation BEFREE We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis. 17517660 2007
Hematologic Neoplasms
CUI: C0376545
Disease: Hematologic Neoplasms
0.010 GeneticVariation BEFREE We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis. 17517660 2007
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR BRAF and NRAS mutations in melanoma: potential relationships to clinical response to HSP90 inhibitors. 18375819 2008
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Phase I pharmacokinetic and pharmacodynamic study of the oral, small-molecule mitogen-activated protein kinase kinase 1/2 inhibitor AZD6244 (ARRY-142886) in patients with advanced cancers. 18390968 2008
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Phase I pharmacokinetic and pharmacodynamic study of the oral, small-molecule mitogen-activated protein kinase kinase 1/2 inhibitor AZD6244 (ARRY-142886) in patients with advanced cancers. 18390968 2008
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Phase I pharmacokinetic and pharmacodynamic study of the oral, small-molecule mitogen-activated protein kinase kinase 1/2 inhibitor AZD6244 (ARRY-142886) in patients with advanced cancers. 18390968 2008
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.700 GeneticVariation CLINVAR Recurring mutations found by sequencing an acute myeloid leukemia genome. 19657110 2009
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.700 GeneticVariation CLINVAR Recurring mutations found by sequencing an acute myeloid leukemia genome. 19657110 2009
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR RAF inhibitors prime wild-type RAF to activate the MAPK pathway and enhance growth. 20130576 2010
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR RAF inhibitors prime wild-type RAF to activate the MAPK pathway and enhance growth. 20130576 2010
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR RAF inhibitors prime wild-type RAF to activate the MAPK pathway and enhance growth. 20130576 2010