DisGeNET - a database of gene-disease associations

Low set ears, C0239234

Variant: rs121918455 ×

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:

rs121918455

PTPN11

0.700

CausalMutation

CLINVAR

Genotype differences in cognitive functioning in Noonan syndrome.

19077116

2009

dbSNP:

rs121918455

PTPN11

0.700

CausalMutation

CLINVAR

Noonan syndrome and related disorders: genetics and pathogenesis.

16124853

2005

dbSNP:

rs121918455

PTPN11

0.700

CausalMutation

CLINVAR

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

12960218

2003

dbSNP:

rs121918455

PTPN11

0.700

CausalMutation

CLINVAR

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

11992261

2002