DisGeNET - a database of gene-disease associations

Omenn Syndrome, C2700553

Variant: rs104894291 ×

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:

rs104894291

RAG1

0.800

GeneticVariation

UNIPROT

Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.

21771083

2011

dbSNP:

rs104894291

RAG1

0.800

GeneticVariation

UNIPROT

Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.

21624848

2011

dbSNP:

rs104894291

RAG1

0.800

GeneticVariation

UNIPROT

Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.

19912631

2009

dbSNP:

rs104894291

RAG1

0.800

GeneticVariation

UNIPROT

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

11133745

2001

dbSNP:

rs104894291

RAG1

0.800

GeneticVariation

UNIPROT

Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders.

10606976

2000

dbSNP:

rs104894291

RAG1

0.800

GeneticVariation

UNIPROT

Partial V(D)J recombination activity leads to Omenn syndrome.

9630231

1998

dbSNP:

rs104894291

RAG1

0.800

CausalMutation

CLINVAR