DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Noonan Syndrome 1 ×

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:

rs267606920

rs267606920

NRAS

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs267606921

rs267606921

NRAS

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs397514553

rs397514553

NRAS

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs869025573

rs869025573

NRAS

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

T

0.700

CausalMutation

CLINVAR