DisGeNET - a database of gene-disease associations

NOONAN SYNDROME 8, C3809233

Variant: rs869025189 ×

Source: ALL

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs869025189

RIT1

0.700

CausalMutation

CLINVAR

Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.

26714497

2016

dbSNP:

rs869025189

RIT1

0.700

CausalMutation

CLINVAR

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

26757980

2016

dbSNP:

rs869025189

RIT1

0.700

CausalMutation

CLINVAR

Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1).

27226556

2016

dbSNP:

rs869025189

RIT1

0.700

CausalMutation

CLINVAR

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.

27101134

2016

dbSNP:

rs869025189

RIT1

0.700

CausalMutation

CLINVAR

Further evidence of the importance of RIT1 in Noonan syndrome.

25124994

2014

dbSNP:

rs869025189

RIT1

0.700

CausalMutation

CLINVAR

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

23791108

2013