DisGeNET - a database of gene-disease associations

Immunodeficiency syndrome, variable, C0398788

Variant: rs121908941 ×

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:

rs121908941

DNMT3B

0.700

CausalMutation

CLINVAR

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

23486536

2013

dbSNP:

rs121908941

DNMT3B

0.700

CausalMutation

CLINVAR

Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).

17893117

2008

dbSNP:

rs121908941

DNMT3B

0.700

CausalMutation

CLINVAR

Mutations in DNA methyltransferase DNMT3B in ICF syndrome affect its regulation by DNMT3L.

16543361

2006

dbSNP:

rs121908941

DNMT3B

0.700

CausalMutation

CLINVAR

DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes.

11741835

2001

dbSNP:

rs121908941

DNMT3B

0.700

CausalMutation

CLINVAR

Genetic variation in ICF syndrome: evidence for genetic heterogeneity.

11102980

2000

dbSNP:

rs121908941

DNMT3B

0.700

CausalMutation

CLINVAR

The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome.

10588719

1999

dbSNP:

rs121908941

DNMT3B

0.700

CausalMutation

CLINVAR

Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.

10647011

1999