Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64421
Gene Symbol: DCLRE1C
DCLRE1C
CUI: C1865370
Disease: Severe combined immunodeficiency with sensitivity to ionizing radiation
Severe combined immunodeficiency with sensitivity to ionizing radiation 		0.910 GeneticVariation UNIPROT We have identified three Japanese boys and one girl from four unrelated families with RS-SCID caused by a genomic exon 3 deletion of the Artemis gene, resulting in loss of exon 3 and skipping of exon 4. 12592555

2003
Entrez Id: 64421
Gene Symbol: DCLRE1C
DCLRE1C
CUI: C1865370
Disease: Severe combined immunodeficiency with sensitivity to ionizing radiation
Severe combined immunodeficiency with sensitivity to ionizing radiation 		0.910 GeneticVariation UNIPROT Expansion of clonotype-restricted HLA-identical maternal CD4+ T cells in a patient with severe combined immunodeficiency and a homozygous mutation in the Artemis gene. 12921762

2003
Entrez Id: 64421
Gene Symbol: DCLRE1C
DCLRE1C
CUI: C1865370
Disease: Severe combined immunodeficiency with sensitivity to ionizing radiation
Severe combined immunodeficiency with sensitivity to ionizing radiation 		0.910 GeneticVariation UNIPROT We identified 5 RS-SCID patients without RAG gene mutations, 4 of them with Artemis gene mutations. 12406895

2003
Entrez Id: 64421
Gene Symbol: DCLRE1C
DCLRE1C
CUI: C1865370
Disease: Severe combined immunodeficiency with sensitivity to ionizing radiation
Severe combined immunodeficiency with sensitivity to ionizing radiation 		0.910 GeneticVariation UNIPROT Null mutations of the Artemis gene result in a complete absence of T and B lymphocytes that is associated with increased cell radiosensitivity, causing the radiosensitive T(-)B(-) SCID (RS-SCID) condition. 12569164

2003
Entrez Id: 64421
Gene Symbol: DCLRE1C
DCLRE1C
CUI: C1865370
Disease: Severe combined immunodeficiency with sensitivity to ionizing radiation
Severe combined immunodeficiency with sensitivity to ionizing radiation 		0.910 GeneticVariation UNIPROT A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans. 12055248

2002
Entrez Id: 64421
Gene Symbol: DCLRE1C
DCLRE1C
CUI: C1865370
Disease: Severe combined immunodeficiency with sensitivity to ionizing radiation
Severe combined immunodeficiency with sensitivity to ionizing radiation 		0.910 GeneticVariation UNIPROT Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. 11336668

2001