DisGeNET - a database of gene-disease associations

BUB1B, BUB1 mitotic checkpoint serine/threonine kinase B, 701

N. diseases: 231; N. variants: 21

Disease: Mosaic variegated aneuploidy syndrome 1 ×

Variant: rs28989185 ×

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:

rs28989185

Entrez Id:	701;56924;106821730;107984763
Gene Symbol:	BUB1B;PAK6;BUB1B-PAK6;LOC107984763

BUB1B;PAK6;BUB1B-PAK6;LOC107984763

CUI:	C1850343
Disease:

Mosaic variegated aneuploidy syndrome 1

0.800

GeneticVariation

UNIPROT

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.

15475955

2004

dbSNP:

rs28989185

Entrez Id:	701;56924;106821730;107984763
Gene Symbol:	BUB1B;PAK6;BUB1B-PAK6;LOC107984763

BUB1B;PAK6;BUB1B-PAK6;LOC107984763

CUI:	C1850343
Disease:

Mosaic variegated aneuploidy syndrome 1

0.800

CausalMutation

CLINVAR