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severe congenital neutropenia 6 - Ontology Report - Rat Genome Database

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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:severe congenital neutropenia 6
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Accession:DOID:0112134 term browser browse the term
Definition:A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the JAGN1 gene on chromosome 3p25.3. (DO)
Synonyms:exact_synonym: SCN6;   autosomal recessive severe congenital neutropenia due to JAGN1 deficiency;   severe congenital neutropenia 6, autosomal recessive
 primary_id: MIM:616022
 xref: ORDO:423384

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severe congenital neutropenia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex IAGP ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 3:10,115,675...10,127,190
Ensembl chr 3:10,115,675...10,127,190 		JBrowse link
G CIDEC cell death inducing DFFA like effector c IAGP ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 3:9,866,710...9,880,253
Ensembl chr 3:9,866,711...9,880,255 		JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 IAGP ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413 		JBrowse link
G EMC3 ER membrane protein complex subunit 3 IAGP ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 3:9,962,682...10,011,118
Ensembl chr 3:9,962,682...10,011,202 		JBrowse link
G FANCD2 FA complementation group D2 IAGP ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCD2OS FANCD2 opposite strand IAGP ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 3:10,081,320...10,108,457
Ensembl chr 3:10,081,317...10,108,255 		JBrowse link
G IL17RC interleukin 17 receptor C IAGP ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 3:9,917,098...9,933,621
Ensembl chr 3:9,917,074...9,933,630 		JBrowse link
G IL17RE interleukin 17 receptor E IAGP ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 3:9,902,093...9,916,402
Ensembl chr 3:9,902,612...9,916,402 		JBrowse link
G JAGN1 jagunal homolog 1 IAGP DNA:missense mutation:exon:p.H44Y (human)
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | ClinVar Annotator: match by term: Severe congenital neutropenia 6, autosomal recessive
DNA:missense mutations: :multiple 		ClinVar
OMIM
RGD		 PMID:9536098 PMID:17576681 PMID:25129144 PMID:25741868 PMID:25851723 More... RGD:11531098, RGD:11531099 NCBI chr 3:9,890,610...9,894,349
Ensembl chr 3:9,890,574...9,894,349 		JBrowse link
G PRRT3 proline rich transmembrane protein 3 IAGP ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 3:9,945,542...9,952,408
Ensembl chr 3:9,939,450...9,952,408 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676 		JBrowse link
Term paths to the root
Path 1
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  disease 151455
    physical disorder 8588
      severe congenital neutropenia 361
        severe congenital neutropenia 6 11
Path 2
Term Annotations click to browse term
  disease 151455
    disease of anatomical entity 138485
      Hemic and Lymphatic Diseases 9910
        hematopoietic system disease 8869
          leukocyte disease 2136
            leukopenia 695
              agranulocytosis 623
                neutropenia 618
                  severe congenital neutropenia 361
                    severe congenital neutropenia 6 11
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