DisGeNET - a database of gene-disease associations

VAN DER WOUDE SYNDROME 1, C4551864

Variant: rs1553247595 ×

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:

rs1553247595

IRF6

0.700

CausalMutation

CLINVAR

Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions.

25784454

2015

dbSNP:

rs1553247595

IRF6

0.700

CausalMutation

CLINVAR

Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases.

23154523

2013

dbSNP:

rs1553247595

IRF6

0.700

CausalMutation

CLINVAR

Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling.

19623037

2009

dbSNP:

rs1553247595

IRF6

0.700

CausalMutation

CLINVAR

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.

19282774

2009

dbSNP:

rs1553247595

IRF6

0.700

CausalMutation

CLINVAR

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.

12219090

2002