DisGeNET - a database of gene-disease associations

RIPK4, receptor interacting serine/threonine kinase 4, 54101

N. diseases: 119; N. variants: 6

Disease: POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE ×

Variant: rs387906922 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs387906922

Entrez Id:	54101
Gene Symbol:	RIPK4

RIPK4

CUI:	C1849718
Disease:

POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE

0.800

GeneticVariation

UNIPROT

Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus.

22197488

2012

dbSNP:

rs387906922

Entrez Id:	54101
Gene Symbol:	RIPK4

RIPK4

CUI:	C1849718
Disease:

POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE

0.800

GeneticVariation

UNIPROT

Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.

22197489

2012

dbSNP:

rs387906922

Entrez Id:	54101
Gene Symbol:	RIPK4

RIPK4

CUI:	C1849718
Disease:

POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE

0.800

CausalMutation

CLINVAR