RGD Annotation Report for combined T cell and B cell immunodeficiencyRat Genome Database

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GENE - TERM ANNOTATION REPORT

17 Annotations Found.

An association has been curated linking IL2RG and combined T cell and B cell immunodeficiency in Homo sapiens.

The association was inferred from sequence orthology (ISO)
The annotation was made from Mashimo T, etal., PLoS One. 2010 Jan 25;5(1):e8870.
The annotation has been inferred from sequence orthology with Il2rg (Rattus norvegicus) [(IMP) inferred from mutant phenotype]
16 additional annotations were made from Mashimo T, etal., PLoS One. 2010 Jan 25;5(1):e8870.
492 RGD objects have been annotated to combined T cell and B cell immunodeficiency (DOID:628)
11 papers in RGD have been used to annotate IL2RG

An association has been curated linking IL2RG and combined T cell and B cell immunodeficiency in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:126741435 (Homo sapiens)
492 RGD objects have been annotated to combined T cell and B cell immunodeficiency (DOID:628)
11 papers in RGD have been used to annotate IL2RG
Curation Notes: ClinVar Annotator: match by term: Combined immunodeficiency, X-linked
Original References(s): PMID:10794430 PMID:16199547 PMID:25741868 PMID:28492532 PMID:33628209 PMID:9058718

An association has been curated linking IL2RG and combined T cell and B cell immunodeficiency in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11075180 (Homo sapiens)
492 RGD objects have been annotated to combined T cell and B cell immunodeficiency (DOID:628)
11 papers in RGD have been used to annotate IL2RG
Curation Notes: ClinVar Annotator: match by term: Combined immunodeficiency, X-linked
Original References(s): PMID:10792291 PMID:21184155 PMID:25741868 PMID:28492532 PMID:28747913 PMID:9049783 PMID:9058718 PMID:9633906

An association has been curated linking IL2RG and combined T cell and B cell immunodeficiency in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from OMIM Disease Annotation Pipeline
492 RGD objects have been annotated to combined T cell and B cell immunodeficiency (DOID:628)
11 papers in RGD have been used to annotate IL2RG

An association has been curated linking IL2RG and combined T cell and B cell immunodeficiency in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:15119424 (Homo sapiens)
492 RGD objects have been annotated to combined T cell and B cell immunodeficiency (DOID:628)
11 papers in RGD have been used to annotate IL2RG
Curation Notes: ClinVar Annotator: match by term: Combined immunodeficiency, X-linked
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking IL2RG and combined T cell and B cell immunodeficiency in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:41407726 (Homo sapiens)
492 RGD objects have been annotated to combined T cell and B cell immunodeficiency (DOID:628)
11 papers in RGD have been used to annotate IL2RG
Curation Notes: ClinVar Annotator: match by term: Combined immunodeficiency, X-linked
Original References(s): PMID:25741868

An association has been curated linking IL2RG and combined T cell and B cell immunodeficiency in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:152061737 (Homo sapiens)
492 RGD objects have been annotated to combined T cell and B cell immunodeficiency (DOID:628)
11 papers in RGD have been used to annotate IL2RG
Curation Notes: ClinVar Annotator: match by term: Combined immunodeficiency, X-linked
Original References(s): PMID:25741868

An association has been curated linking IL2RG and combined T cell and B cell immunodeficiency in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8598457 (Homo sapiens)
492 RGD objects have been annotated to combined T cell and B cell immunodeficiency (DOID:628)
11 papers in RGD have been used to annotate IL2RG
Curation Notes: ClinVar Annotator: match by term: Combined immunodeficiency, X-linked
Original References(s): PMID:10794431 PMID:16227049 PMID:20301584 PMID:23683512 PMID:25042067 PMID:25741868 PMID:28492532 PMID:29948574 PMID:31965297 PMID:7557965 PMID:7668284 PMID:9399950

An association has been curated linking IL2RG and combined T cell and B cell immunodeficiency in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:12894744 (Homo sapiens)
492 RGD objects have been annotated to combined T cell and B cell immunodeficiency (DOID:628)
11 papers in RGD have been used to annotate IL2RG
Curation Notes: ClinVar Annotator: match by term: Combined immunodeficiency, X-linked
Original References(s): PMID:10794430 PMID:20301584 PMID:25741868 PMID:28492532 PMID:28747913 PMID:30622570 PMID:30778380 PMID:31799703 PMID:32499645

An association has been curated linking IL2RG and combined T cell and B cell immunodeficiency in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:153346459 (Homo sapiens)
492 RGD objects have been annotated to combined T cell and B cell immunodeficiency (DOID:628)
11 papers in RGD have been used to annotate IL2RG
Curation Notes: ClinVar Annotator: match by term: Combined immunodeficiency, X-linked
Original References(s): PMID:25741868

An association has been curated linking IL2RG and combined T cell and B cell immunodeficiency in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:150547726 (Homo sapiens)
492 RGD objects have been annotated to combined T cell and B cell immunodeficiency (DOID:628)
11 papers in RGD have been used to annotate IL2RG
Curation Notes: ClinVar Annotator: match by term: Combined immunodeficiency, X-linked
Original References(s): PMID:10794431 PMID:25741868 PMID:28492532 PMID:9633906

An association has been curated linking IL2RG and combined T cell and B cell immunodeficiency in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:127321952 (Homo sapiens)
492 RGD objects have been annotated to combined T cell and B cell immunodeficiency (DOID:628)
11 papers in RGD have been used to annotate IL2RG
Curation Notes: ClinVar Annotator: match by term: Combined immunodeficiency, X-linked
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking IL2RG and combined T cell and B cell immunodeficiency in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:150429575 (Homo sapiens)
492 RGD objects have been annotated to combined T cell and B cell immunodeficiency (DOID:628)
11 papers in RGD have been used to annotate IL2RG
Curation Notes: ClinVar Annotator: match by term: Combined immunodeficiency, X-linked
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking IL2RG and combined T cell and B cell immunodeficiency in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:150429574 (Homo sapiens)
492 RGD objects have been annotated to combined T cell and B cell immunodeficiency (DOID:628)
11 papers in RGD have been used to annotate IL2RG
Curation Notes: ClinVar Annotator: match by term: Combined immunodeficiency, X-linked
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking IL2RG and combined T cell and B cell immunodeficiency in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11075183 (Homo sapiens)
492 RGD objects have been annotated to combined T cell and B cell immunodeficiency (DOID:628)
11 papers in RGD have been used to annotate IL2RG
Curation Notes: ClinVar Annotator: match by term: Combined immunodeficiency, X-linked
Original References(s): PMID:14966353 PMID:18641513 PMID:22039266 PMID:23683512 PMID:25741868 PMID:25869287 PMID:28492532 PMID:28747913 PMID:7632950 PMID:7668284 PMID:9058718

An association has been curated linking IL2RG and combined T cell and B cell immunodeficiency in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8598454 (Homo sapiens)
492 RGD objects have been annotated to combined T cell and B cell immunodeficiency (DOID:628)
11 papers in RGD have been used to annotate IL2RG
Curation Notes: ClinVar Annotator: match by term: Combined immunodeficiency, X-linked
Original References(s): PMID:12126929 PMID:28492532 PMID:7883965 PMID:7973658

An association has been curated linking IL2RG and combined T cell and B cell immunodeficiency in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:12849308 (Homo sapiens)
492 RGD objects have been annotated to combined T cell and B cell immunodeficiency (DOID:628)
11 papers in RGD have been used to annotate IL2RG
Curation Notes: ClinVar Annotator: match by term: Combined immunodeficiency, X-linked
Original References(s): PMID:11129345 PMID:24534054 PMID:25741868 PMID:28492532 PMID:8088810

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