DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs121434596 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121434596

NRAS

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

0.810

CausalMutation

CLINVAR

dbSNP:

rs121434596

NRAS

CUI:	C2674723
Disease:	RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER

RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER

0.800

CausalMutation

CLINVAR

dbSNP:

rs121434596

NRAS

CUI:	C2750732
Disease:	Noonan Syndrome 6

Noonan Syndrome 6

0.700

CausalMutation

CLINVAR

dbSNP:

rs121434596

NRAS

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

CausalMutation

CLINVAR

N-ras mutations in human cutaneous melanoma from sun-exposed body sites.

2674680

1989

dbSNP:

rs121434596

NRAS

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

CausalMutation

CLINVAR

N-ras mutations in human cutaneous melanoma from sun-exposed body sites.

2674680

1989

dbSNP:

rs121434596

NRAS

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

CausalMutation

CLINVAR

N-ras mutations in human cutaneous melanoma from sun-exposed body sites.

2674680

1989

dbSNP:

rs121434596

NRAS

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

CausalMutation

CLINVAR

Ras mutations in human melanoma: a marker of malignant progression.

8120410

1994

dbSNP:

rs121434596

NRAS

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

CausalMutation

CLINVAR

Ras mutations in human melanoma: a marker of malignant progression.

8120410

1994

dbSNP:

rs121434596

NRAS

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

CausalMutation

CLINVAR

Ras mutations in human melanoma: a marker of malignant progression.

8120410

1994

dbSNP:

rs121434596

NRAS

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

CausalMutation

CLINVAR

Distinct sets of genetic alterations in melanoma.

16291983

2005

dbSNP:

rs121434596

NRAS

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

CausalMutation

CLINVAR

Distinct sets of genetic alterations in melanoma.

16291983

2005

dbSNP:

rs121434596

NRAS

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

CausalMutation

CLINVAR

Distinct sets of genetic alterations in melanoma.

16291983

2005

dbSNP:

rs121434596

NRAS

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

CausalMutation

CLINVAR

BRAF and NRAS mutations in melanoma: potential relationships to clinical response to HSP90 inhibitors.

18375819

2008

dbSNP:

rs121434596

NRAS

CUI:	C0025202
Disease:	melanoma

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

dbSNP:

rs121434596

NRAS

CUI:	C0025202
Disease:	melanoma

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

dbSNP:

rs121434596

NRAS

CUI:	C0025202
Disease:	melanoma

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

dbSNP:

rs121434596

NRAS

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

CLINVAR

Recurring mutations found by sequencing an acute myeloid leukemia genome.

19657110

2009

dbSNP:

rs121434596

NRAS

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

CLINVAR

Recurring mutations found by sequencing an acute myeloid leukemia genome.

19657110

2009

dbSNP:

rs121434596

NRAS

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

CausalMutation

CLINVAR

RAF inhibitors prime wild-type RAF to activate the MAPK pathway and enhance growth.

20130576

2010

dbSNP:

rs121434596

NRAS

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

CausalMutation

CLINVAR

RAF inhibitors prime wild-type RAF to activate the MAPK pathway and enhance growth.

20130576

2010

dbSNP:

rs121434596

NRAS

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

CausalMutation

CLINVAR

RAF inhibitors prime wild-type RAF to activate the MAPK pathway and enhance growth.

20130576

2010

dbSNP:

rs121434596

NRAS

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

CausalMutation

CLINVAR

RAF inhibitors transactivate RAF dimers and ERK signalling in cells with wild-type BRAF.

20179705

2010

dbSNP:

rs121434596

NRAS

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

CausalMutation

CLINVAR

RAF inhibitors transactivate RAF dimers and ERK signalling in cells with wild-type BRAF.

20179705

2010

dbSNP:

rs121434596

NRAS

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

CausalMutation

CLINVAR

RAF inhibitors transactivate RAF dimers and ERK signalling in cells with wild-type BRAF.

20179705

2010

dbSNP:

rs121434596

NRAS

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

CausalMutation

CLINVAR

MEK162 for patients with advanced melanoma harbouring NRAS or Val600 BRAF mutations: a non-randomised, open-label phase 2 study.

23414587

2013