DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Costello syndrome (disorder) ×

Gene: HRAS ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C0587248
Disease:	Costello syndrome (disorder)

Costello syndrome (disorder)

1.000

Biomarker

GENOMICS_ENGLAND

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C0587248
Disease:	Costello syndrome (disorder)

Costello syndrome (disorder)

1.000

CausalMutation

CLINVAR

Carcinogen-induced mutations in the mouse c-Ha-ras gene provide evidence of multiple pathways for tumor progression.

2105486

1990

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C0587248
Disease:	Costello syndrome (disorder)

Costello syndrome (disorder)

1.000

GeneticVariation

CLINVAR

rac, a novel ras-related family of proteins that are botulinum toxin substrates.

2674130

1989

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C0587248
Disease:	Costello syndrome (disorder)

Costello syndrome (disorder)

1.000

GeneticVariation

CLINVAR

Ras p21 proteins with high or low GTPase activity can efficiently transform NIH/3T3 cells.

3004741

1986

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C0587248
Disease:	Costello syndrome (disorder)

Costello syndrome (disorder)

1.000

GeneticVariation

CLINVAR

The ras gene family and human carcinogenesis.

3283542

1988

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C0587248
Disease:	Costello syndrome (disorder)

Costello syndrome (disorder)

1.000

GeneticVariation

CLINVAR

ras genes.

3304147

1987

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C0587248
Disease:	Costello syndrome (disorder)

Costello syndrome (disorder)

1.000

GeneticVariation

CLINVAR

Nucleotide sequence of the p21 transforming protein of Harvey murine sarcoma virus.

6287572

1982

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C0587248
Disease:	Costello syndrome (disorder)

Costello syndrome (disorder)

1.000

GeneticVariation

CLINVAR

Nucleotide sequence of the oncogene encoding the p21 transforming protein of Kirsten murine sarcoma virus.

6287573

1982

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C0587248
Disease:	Costello syndrome (disorder)

Costello syndrome (disorder)

1.000

GeneticVariation

CLINVAR

Characterization of the phosphorylation sites and the surrounding amino acid sequences of the p21 transforming proteins coded for by the Harvey and Kirsten strains of murine sarcoma viruses.

6288698

1982

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C0587248
Disease:	Costello syndrome (disorder)

Costello syndrome (disorder)

1.000

GeneticVariation

CLINVAR

Role of the switch II region in the conformational transition of activation of Ha-ras-p21.

10716188

2000

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C0587248
Disease:	Costello syndrome (disorder)

Costello syndrome (disorder)

1.000

GeneticVariation

BEFREE

Germline mutations in HRAS proto-oncogene cause Costello syndrome.

16170316

2005

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C0587248
Disease:	Costello syndrome (disorder)

Costello syndrome (disorder)

1.000

GeneticVariation

UNIPROT

Germline mutations in HRAS proto-oncogene cause Costello syndrome.

16170316

2005

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C0587248
Disease:	Costello syndrome (disorder)

Costello syndrome (disorder)

1.000

Biomarker

GENOMICS_ENGLAND

Germline mutations in HRAS proto-oncogene cause Costello syndrome.

16170316

2005

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C0587248
Disease:	Costello syndrome (disorder)

Costello syndrome (disorder)

1.000

CausalMutation

CLINVAR

Germline mutations in HRAS proto-oncogene cause Costello syndrome.

16170316

2005

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C0587248
Disease:	Costello syndrome (disorder)

Costello syndrome (disorder)

1.000

CausalMutation

CLINVAR

Five different HRAS mutations have now been reported in Costello syndrome, however genotype-phenotype correlation remains incomplete.

16329078

2006

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C0587248
Disease:	Costello syndrome (disorder)

Costello syndrome (disorder)

1.000

GeneticVariation

UNIPROT

Five different HRAS mutations have now been reported in Costello syndrome, however genotype-phenotype correlation remains incomplete.

16329078

2006

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C0587248
Disease:	Costello syndrome (disorder)

Costello syndrome (disorder)

1.000

GeneticVariation

BEFREE

Five different HRAS mutations have now been reported in Costello syndrome, however genotype-phenotype correlation remains incomplete.

16329078

2006

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C0587248
Disease:	Costello syndrome (disorder)

Costello syndrome (disorder)

1.000

CausalMutation

CLINVAR

HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

16372351

2006

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C0587248
Disease:	Costello syndrome (disorder)

Costello syndrome (disorder)

1.000

GeneticVariation

BEFREE

Finally, due to phenotypic overlap between CS and cardio-facio-cutaneous (CFC) syndromes, the HRAS coding region was sequenced in a well-characterized CFC cohort.

16372351

2006

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C0587248
Disease:	Costello syndrome (disorder)

Costello syndrome (disorder)

1.000

CausalMutation

CLINVAR

These results confirm that CS is caused, in most cases, by heterozygous missense mutations in the proto-oncogene HRAS.

16443854

2006

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C0587248
Disease:	Costello syndrome (disorder)

Costello syndrome (disorder)

1.000

GeneticVariation

UNIPROT

These results confirm that CS is caused, in most cases, by heterozygous missense mutations in the proto-oncogene HRAS.

16443854

2006

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C0587248
Disease:	Costello syndrome (disorder)

Costello syndrome (disorder)

1.000

GeneticVariation

CLINVAR

These results confirm that CS is caused, in most cases, by heterozygous missense mutations in the proto-oncogene HRAS.

16443854

2006

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C0587248
Disease:	Costello syndrome (disorder)

Costello syndrome (disorder)

1.000

GeneticVariation

BEFREE

We report here the results of HRAS analysis in 43 individuals with a clinical diagnosis of CS.

16443854

2006

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C0587248
Disease:	Costello syndrome (disorder)

Costello syndrome (disorder)

1.000

CausalMutation

CLINVAR

Germline KRAS mutations cause Noonan syndrome.

16474405

2006

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C0587248
Disease:	Costello syndrome (disorder)

Costello syndrome (disorder)

1.000

GeneticVariation

BEFREE

Costello syndrome (CS) is a rare genetic condition due to germline mutations in HRAS proto-oncogene and characterized by increased birth weight, postnatal growth retardation, distinctive facial appearance, typical medical problems (including feeding problems in the neonatal period), cutaneous anomalies, and developmental delay.

16575889

2006