RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Agammaglobulinemia 2, Autosomal Recessive
Accession: DOID:9001787
browse the term
Synonyms: exact_synonym: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGLL1 DEFECT; AGM2; Agammaglobulinemia 2
primary_id: OMIM:613500
For additional species annotation, visit the
Alliance of Genome Resources .
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Adora2a
adenosine A2a receptor
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
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Cabin1
calcineurin binding protein 1
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,893,314...13,015,357
Ensembl chr20:12,893,358...13,015,357
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Chchd10
coiled-coil-helix-coiled-coil-helix domain containing 10
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,725,839...12,727,638
Ensembl chr20:12,725,842...12,732,763
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Ddt
D-dopachrome tautomerase
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,884,216...12,886,687
Ensembl chr20:12,884,243...12,888,482
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Derl3
derlin 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027
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Ggt5
gamma-glutamyltransferase 5
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:13,043,255...13,071,523
Ensembl chr20:13,043,257...13,071,450
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Gstt1
glutathione S-transferase theta 1
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Gstt2
glutathione S-transferase, theta 2
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,819,617...12,823,288
Ensembl chr20:12,819,170...12,823,288
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Mif
macrophage migration inhibitory factor
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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Mmp11
matrix metallopeptidase 11
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,730,846...12,739,629
Ensembl chr20:12,730,836...12,739,628
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RGD1564162
similar to Homo sapiens fetal lung specific expression unknown
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,721,738...12,725,864
Ensembl chr20:12,723,160...12,726,059
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Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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Specc1l
sperm antigen with calponin homology and coiled-coil domains 1-like
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665
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Susd2
sushi domain containing 2
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:13,017,468...13,024,903
Ensembl chr20:13,017,477...13,024,903
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Upb1
beta-ureidopropionase 1
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:13,217,252...13,243,590
Ensembl chr20:13,217,258...13,243,590
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Vpreb3
V-set pre-B cell surrogate light chain 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,717,475...12,718,785
Ensembl chr20:12,716,779...12,719,520
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