DisGeNET - a database of gene-disease associations

Dysmorphic features, C0432072

Gene: FLT4 ×

Source: CLINVAR ×

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:

rs1554109707

FLT4

0.700

GeneticVariation

CLINVAR

Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema.

24167460

2013

dbSNP:

rs1554109707

FLT4

0.700

GeneticVariation

CLINVAR

FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.

23074044

2013

dbSNP:

rs1554109707

FLT4

0.700

GeneticVariation

CLINVAR

Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas.

19002718

2009

dbSNP:

rs1554109707

FLT4

0.700

GeneticVariation

CLINVAR

Milroy disease and the VEGFR-3 mutation phenotype.

15689446

2005

dbSNP:

rs1554109707

FLT4

0.700

GeneticVariation

CLINVAR

Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema.

12960217

2003

dbSNP:

rs1554109707

FLT4

0.700

GeneticVariation

CLINVAR

Hereditary lymphedema: evidence for linkage and genetic heterogeneity.

9817924

1998