DisGeNET - a database of gene-disease associations

X-linked agammaglobulinemia, C0221026

Variant: rs886041148 ×

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:

rs886041148

BTK

0.700

CausalMutation

CLINVAR

Bruton tyrosine kinase gene mutations in Argentina.

12655572

2003

dbSNP:

rs886041148

BTK

0.700

CausalMutation

CLINVAR

Bruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemia.

10737994

2000

dbSNP:

rs886041148

BTK

0.700

CausalMutation

CLINVAR

Mutation analysis in Bruton's tyrosine kinase, the X-linked agammaglobulinaemia gene, including identification of an insertional hotspot.

7633429

1995