DisGeNET - a database of gene-disease associations

MAPKBP1, mitogen-activated protein kinase binding protein 1, 23005

N. diseases: 15; N. variants: 13

Disease: NEPHRONOPHTHISIS 20 ×

Variant: rs1057519305 ×

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:

rs1057519305

rs1057519305

Entrez Id:	23005
Gene Symbol:	MAPKBP1

MAPKBP1

CUI:	C4310640
Disease:

NEPHRONOPHTHISIS 20

A

0.800

CausalMutation

CLINVAR

dbSNP:

rs1057519305

rs1057519305

Entrez Id:	23005
Gene Symbol:	MAPKBP1

MAPKBP1

CUI:	C4310640
Disease:

NEPHRONOPHTHISIS 20

0.800

GeneticVariation

UNIPROT