DisGeNET - a database of gene-disease associations

Source: ALL

Disease: NOONAN SYNDROME 3 ×

Variant: rs104894366 ×

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:

rs104894366

KRAS

CUI:	C1860991
Disease:	NOONAN SYNDROME 3

NOONAN SYNDROME 3

0.800

CausalMutation

CLINVAR

Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

24803665

2014

dbSNP:

rs104894366

KRAS

CUI:	C1860991
Disease:	NOONAN SYNDROME 3

NOONAN SYNDROME 3

0.800

GeneticVariation

UNIPROT

Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.

20949621

2011

dbSNP:

rs104894366

KRAS

CUI:	C1860991
Disease:	NOONAN SYNDROME 3

NOONAN SYNDROME 3

0.800

CausalMutation

CLINVAR

Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.

20949621

2011

dbSNP:

rs104894366

KRAS

CUI:	C1860991
Disease:	NOONAN SYNDROME 3

NOONAN SYNDROME 3

0.800

GeneticVariation

UNIPROT

Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations.

19396835

2009

dbSNP:

rs104894366

KRAS

CUI:	C1860991
Disease:	NOONAN SYNDROME 3

NOONAN SYNDROME 3

0.800

GeneticVariation

UNIPROT

Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene.

17468812

2007

dbSNP:

rs104894366

KRAS

CUI:	C1860991
Disease:	NOONAN SYNDROME 3

NOONAN SYNDROME 3

0.800

GeneticVariation

UNIPROT

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

17056636

2007

dbSNP:

rs104894366

KRAS

CUI:	C1860991
Disease:	NOONAN SYNDROME 3

NOONAN SYNDROME 3

0.800

GeneticVariation

UNIPROT

Germline KRAS mutations cause Noonan syndrome.

16474405

2006

dbSNP:

rs104894366

KRAS

CUI:	C1860991
Disease:	NOONAN SYNDROME 3

NOONAN SYNDROME 3

0.800

CausalMutation

CLINVAR

Germline KRAS mutations cause Noonan syndrome.

16474405

2006

dbSNP:

rs104894366

KRAS

CUI:	C1860991
Disease:	NOONAN SYNDROME 3

NOONAN SYNDROME 3

0.800

GeneticVariation

UNIPROT

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.

16773572

2006