DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Pediatric failure to thrive ×

Variant: rs397507545 ×

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:

rs397507545

PTPN11

CUI:	C2315100
Disease:	Pediatric failure to thrive

Pediatric failure to thrive

0.700

CausalMutation

CLINVAR

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

16358218

2006

dbSNP:

rs397507545

PTPN11

CUI:	C2315100
Disease:	Pediatric failure to thrive

Pediatric failure to thrive

0.700

CausalMutation

CLINVAR

The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.

15928039

2005

dbSNP:

rs397507545

PTPN11

CUI:	C2315100
Disease:	Pediatric failure to thrive

Pediatric failure to thrive

0.700

CausalMutation

CLINVAR

Genotype-phenotype correlations in Noonan syndrome.

15001945

2004

dbSNP:

rs397507545

PTPN11

CUI:	C2315100
Disease:	Pediatric failure to thrive

Pediatric failure to thrive

0.700

CausalMutation

CLINVAR

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.

12717436

2003