DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Noonan Syndrome 5 ×

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:

rs121434594

rs121434594

RAF1

CUI:	C1969057
Disease:	Noonan Syndrome 5

Noonan Syndrome 5

C

0.800

CausalMutation

CLINVAR

dbSNP:

rs121434594

rs121434594

RAF1

CUI:	C1969057
Disease:	Noonan Syndrome 5

Noonan Syndrome 5

A

0.800

CausalMutation

CLINVAR

dbSNP:

rs397516827

rs397516827

RAF1

CUI:	C1969057
Disease:	Noonan Syndrome 5

Noonan Syndrome 5

C

0.800

GeneticVariation

CLINVAR

dbSNP:

rs397516828

rs397516828

RAF1

CUI:	C1969057
Disease:	Noonan Syndrome 5

Noonan Syndrome 5

C

0.800

CausalMutation

CLINVAR

dbSNP:

rs397516830

rs397516830

RAF1

CUI:	C1969057
Disease:	Noonan Syndrome 5

Noonan Syndrome 5

T

0.800

CausalMutation

CLINVAR

dbSNP:

rs80338796

rs80338796

RAF1

CUI:	C1969057
Disease:	Noonan Syndrome 5

Noonan Syndrome 5

A

0.800

CausalMutation

CLINVAR

dbSNP:

rs80338797

rs80338797

RAF1

CUI:	C1969057
Disease:	Noonan Syndrome 5

Noonan Syndrome 5

C

0.800

CausalMutation

CLINVAR

dbSNP:

rs80338799

rs80338799

RAF1

CUI:	C1969057
Disease:	Noonan Syndrome 5

Noonan Syndrome 5

C

0.800

CausalMutation

CLINVAR

dbSNP:

rs886039607

rs886039607

RAF1

CUI:	C1969057
Disease:	Noonan Syndrome 5

Noonan Syndrome 5

G

0.700

CausalMutation

CLINVAR