DisGeNET - a database of gene-disease associations

ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY, C1835931

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	5896
Gene Symbol:	RAG1

RAG1

0.700

GeneticVariation

disease

UNIPROT

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.

2005

Entrez Id:	5896
Gene Symbol:	RAG1

RAG1

0.700

GeneticVariation

disease

CLINVAR

Entrez Id:	5896
Gene Symbol:	RAG1

RAG1

0.700

GermlineCausalMutation

disease

ORPHANET

Entrez Id:	5896
Gene Symbol:	RAG1

RAG1

0.700

Biomarker

disease

GENOMICS_ENGLAND

Entrez Id:	5896
Gene Symbol:	RAG1

RAG1

0.700

CausalMutation

disease

CLINVAR

Entrez Id:	5896
Gene Symbol:	RAG1

RAG1

0.700

Biomarker

disease

CTD_human

Entrez Id:	5897
Gene Symbol:	RAG2

RAG2

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	5897
Gene Symbol:	RAG2

RAG2

0.100

CausalMutation

disease

CLINVAR