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GENE - TERM ANNOTATION REPORT

RGD ID: 628593
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Unc13d
Name: unc-13 homolog D
Acc ID: DOID:0110923
Term: familial hemophagocytic lymphohistiocytosis 3
Definition: A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of UNC13D on chromosome 17q25.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/14622600
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:16042047240710OMIM  
 ISORGD:16042048554872ClinVarClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3

 
 ISORGD:16042048554872ClinVarClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3

PMID:14622600
 ISORGD:16042048554872ClinVarClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3

PMID:14622600, PMID:16278825, PMID:18492689, PMID:19704116, PMID:21248318, PMID:25573973, PMID:25741868, PMID:28492532
 ISORGD:16042048554872ClinVarClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3

PMID:14622600, PMID:16278825, PMID:21152410, PMID:21674762, PMID:24470399, PMID:28492532
 ISORGD:16042048554872ClinVarClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3

PMID:14622600, PMID:16825436
 ISORGD:16042048554872ClinVarClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3

PMID:14622600, PMID:16825436, PMID:18492689, PMID:21248318, PMID:23669735, PMID:24825797, PMID:25573973, PMID:28492532
 ISORGD:16042048554872ClinVarClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3

PMID:14622600, PMID:24470399, PMID:28492532
 ISORGD:16042048554872ClinVarClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3

PMID:14622600, PMID:28492532
 ISORGD:16042048554872ClinVarClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3

PMID:16278825
 ISORGD:16042048554872ClinVarClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3

PMID:16278825, PMID:18492689, PMID:19484379, PMID:20823128, PMID:21248318, PMID:26342526, PMID:28492532
 ISORGD:16042048554872ClinVarClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3

PMID:16825436
 ISORGD:16042048554872ClinVarClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3

PMID:16825436, PMID:18492689, PMID:25741868, PMID:28492532
 ISORGD:16042048554872ClinVarClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3

PMID:16825436, PMID:24033266, PMID:25741868, PMID:28492532
 ISORGD:16042048554872ClinVarClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3

PMID:17993578, PMID:23180437
 ISORGD:16042048554872ClinVarClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3

PMID:18759271, PMID:28492532
 ISORGD:16042048554872ClinVarClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3

PMID:20823128, PMID:28492532
 ISORGD:16042048554872ClinVarClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3

PMID:21248318
 ISORGD:16042048554872ClinVarClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3

PMID:21600143, PMID:25741868
 ISORGD:16042048554872ClinVarClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3

PMID:21755595, PMID:24139496, PMID:28492532
 ISORGD:16042048554872ClinVarClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3

PMID:21881043, PMID:28492532
 ISORGD:16042048554872ClinVarClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3

PMID:21931115, PMID:23180437, PMID:24470399, PMID:24842371, PMID:24935083, PMID:25553300, PMID:25573973, PMID:28492532
 ISORGD:16042048554872ClinVarClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3

PMID:23560006, PMID:27123661, PMID:28492532, PMID:28848550
 ISORGD:16042048554872ClinVarClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3

PMID:24033266, PMID:25741868
 ISORGD:16042048554872ClinVarClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3

PMID:24033266, PMID:28492532
 ISORGD:16042048554872ClinVarClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3

PMID:25741868
 ISORGD:16042048554872ClinVarClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3

PMID:25741868, PMID:28492532
 ISORGD:16042048554872ClinVarClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3

PMID:25901543, PMID:28492532
 ISORGD:16042048554872ClinVarClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3

PMID:28492532
susceptibilityISORGD:16042041600451RGDDNA:deletions, insertion, snps:exons, intron:multiple (human)

 
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.