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GENE - TERM ANNOTATION REPORT

RGD ID: 1317469
Species: Homo sapiens
RGD Object: Gene
Symbol: ELANE
Name: elastase, neutrophil expressed
Acc ID: DOID:0080625
Term: severe congenital neutropenia 1
Definition: A severe congenital neutropenia that has_material_basis_in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17133096 "DO" "DO"
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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
ELANE IAGP 7240710OMIM  
ELANE EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
ELANE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominantPMID:17053055 PMID:20301705
ELANE IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ELANE-related condition | ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominantPMID:25741868 PMID:28492532
ELANE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominantPMID:25741868 PMID:31839986
ELANE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominantPMID:10581030 PMID:17576681 PMID:23463630 PMID:24616599 PMID:25741868 PMID:28492532 PMID:9536098
ELANE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominantPMID:10581030 PMID:17576681 PMID:20049848 PMID:23463630 PMID:25741868 PMID:28492532 PMID:30040071 PMID:32581362 PMID:9536098
ELANE IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ELANE-related condition | ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominantPMID:25741868
ELANE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ELANE-related conditionPMID:14962902 PMID:23463630 PMID:25741868 PMID:28492532
ELANE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominantPMID:11675333 PMID:17391497 PMID:23463630 PMID:24523240 PMID:25427142 PMID:25741868 PMID:28492532
ELANE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominantPMID:14962902 PMID:23463630 PMID:25741868 PMID:28492532 PMID:33942430
ELANE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant 
ELANE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ELANE-related conditionPMID:23463630 PMID:25741868 PMID:28492532
ELANE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominantPMID:23463630 PMID:25741868
ELANE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominantPMID:25741868 PMID:33318085
ELANE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominantPMID:18611981 PMID:19036076 PMID:22148006 PMID:23463630 PMID:25741868 PMID:28492532 PMID:30273710 PMID:30635825
ELANE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominantPMID:10581030 PMID:11675333 PMID:19036076 PMID:23463630 PMID:25703294 PMID:25741868 PMID:28492532
ELANE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominantPMID:11001877 PMID:14962902 PMID:16079102 PMID:18028488 PMID:21425445 PMID:23463630 PMID:25741868 PMID:28492532 PMID:30040071 PMID:31248972 PMID:31321910 PMID:32888943 PMID:34093558 PMID:34340247 PMID:34573280
ELANE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominantPMID:11001877 PMID:11278653 PMID:22510773 PMID:23463630 PMID:28492532
ELANE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominantPMID:11001877 PMID:11675333 PMID:14962902 PMID:16079102 PMID:16551967 PMID:16737875 PMID:18028488 PMID:18611981 PMID:20582973 PMID:22758217 PMID:23463630 PMID:26567890 PMID:28492532
ELANE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominantPMID:11675333
ELANE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominantPMID:11001877 PMID:14962902 PMID:15657182 PMID:16079102 PMID:18028488 PMID:23463630 PMID:25427142 PMID:25741868 PMID:28073911 PMID:28492532 PMID:30386760 PMID:3229910
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