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GENE - TERM ANNOTATION REPORT

11 Annotations Found.

An association has been curated linking AIFM1 and X-linked deafness 5 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:10448916 (Homo sapiens)
  • 3 RGD objects have been annotated to X-linked deafness 5  (DOID:0111741)
  • 21 papers in RGD have been used to annotate AIFM1
  • Curation Notes: ClinVar Annotator: match by term: Deafness, X-linked 5
  • Original References(s): PMID:25986071


  • An association has been curated linking AIFM1 and X-linked deafness 5 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:11631269 (Homo sapiens)
  • 3 RGD objects have been annotated to X-linked deafness 5  (DOID:0111741)
  • 21 papers in RGD have been used to annotate AIFM1
  • Curation Notes: ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking AIFM1 and X-linked deafness 5 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:10448920 (Homo sapiens)
  • 3 RGD objects have been annotated to X-linked deafness 5  (DOID:0111741)
  • 21 papers in RGD have been used to annotate AIFM1
  • Curation Notes: ClinVar Annotator: match by term: Deafness, X-linked 5
  • Original References(s): PMID:16816020 PMID:25986071


  • An association has been curated linking AIFM1 and X-linked deafness 5 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 3 RGD objects have been annotated to X-linked deafness 5  (DOID:0111741)
  • 21 papers in RGD have been used to annotate AIFM1


  • An association has been curated linking AIFM1 and X-linked deafness 5 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:151348985 (Homo sapiens)
  • 3 RGD objects have been annotated to X-linked deafness 5  (DOID:0111741)
  • 21 papers in RGD have been used to annotate AIFM1
  • Curation Notes: ClinVar Annotator: match by term: Deafness, X-linked 5
  • Original References(s): PMID:25741868


  • An association has been curated linking AIFM1 and X-linked deafness 5 in Homo sapiens.        

  • The association was inferred from experiment (EXP)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 3 RGD objects have been annotated to X-linked deafness 5  (DOID:0111741)
  • 21 papers in RGD have been used to annotate AIFM1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


  • An association has been curated linking AIFM1 and X-linked deafness 5 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:11631269|RGD:28878605 (Homo sapiens) & RGD:11631269|RGD:28878605 (Homo sapiens)
  • 3 RGD objects have been annotated to X-linked deafness 5  (DOID:0111741)
  • 21 papers in RGD have been used to annotate AIFM1
  • Curation Notes: ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking AIFM1 and X-linked deafness 5 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:9687541|RGD:9687543|RGD:9687551 (Homo sapiens) & RGD:9687541|RGD:9687543|RGD:9687551 (Homo sapiens) & RGD:9687541|RGD:9687543|RGD:9687551 (Homo sapiens)
  • 3 RGD objects have been annotated to X-linked deafness 5  (DOID:0111741)
  • 21 papers in RGD have been used to annotate AIFM1
  • Curation Notes: ClinVar Annotator: match by term: Deafness, X-linked 5
  • Original References(s): PMID:28492532


  • An association has been curated linking AIFM1 and X-linked deafness 5 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:21073812|RGD:243050342|RGD:243050346|RGD:9687538|RGD:9687539|RGD:9687542|RGD:9687547|RGD:9687548|RGD:9687549|RGD:9687550 (Homo sapiens) & RGD:21073812|RGD:243050342|RGD:243050346|RGD:9687538|RGD:9687539|RGD:9687542|RGD:9687547|RGD:9687548|RGD:9687549|RGD:9687550 (Homo sapiens) & RGD:21073812|RGD:243050342|RGD:243050346|RGD:9687538|RGD:9687539|RGD:9687542|RGD:9687547|RGD:9687548|RGD:9687549|RGD:9687550 (Homo sapiens) & RGD:21073812|RGD:243050342|RGD:243050346|RGD:9687538|RGD:9687539|RGD:9687542|RGD:9687547|RGD:9687548|RGD:9687549|RGD:9687550 (Homo sapiens) & RGD:21073812|RGD:243050342|RGD:243050346|RGD:9687538|RGD:9687539|RGD:9687542|RGD:9687547|RGD:9687548|RGD:9687549|RGD:9687550 (Homo sapiens) & RGD:21073812|RGD:243050342|RGD:243050346|RGD:9687538|RGD:9687539|RGD:9687542|RGD:9687547|RGD:9687548|RGD:9687549|RGD:9687550 (Homo sapiens) & RGD:21073812|RGD:243050342|RGD:243050346|RGD:9687538|RGD:9687539|RGD:9687542|RGD:9687547|RGD:9687548|RGD:9687549|RGD:9687550 (Homo sapiens) & RGD:21073812|RGD:243050342|RGD:243050346|RGD:9687538|RGD:9687539|RGD:9687542|RGD:9687547|RGD:9687548|RGD:9687549|RGD:9687550 (Homo sapiens) & RGD:21073812|RGD:243050342|RGD:243050346|RGD:9687538|RGD:9687539|RGD:9687542|RGD:9687547|RGD:9687548|RGD:9687549|RGD:9687550 (Homo sapiens) & RGD:21073812|RGD:243050342|RGD:243050346|RGD:9687538|RGD:9687539|RGD:9687542|RGD:9687547|RGD:9687548|RGD:9687549|RGD:9687550 (Homo sapiens)
  • 3 RGD objects have been annotated to X-linked deafness 5  (DOID:0111741)
  • 21 papers in RGD have been used to annotate AIFM1
  • Curation Notes: ClinVar Annotator: match by term: Deafness, X-linked 5


  • An association has been curated linking AIFM1 and X-linked deafness 5 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:9687544|RGD:9687545 (Homo sapiens) & RGD:9687544|RGD:9687545 (Homo sapiens)
  • 3 RGD objects have been annotated to X-linked deafness 5  (DOID:0111741)
  • 21 papers in RGD have been used to annotate AIFM1
  • Curation Notes: ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5
  • Original References(s): PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270


  • An association has been curated linking AIFM1 and X-linked deafness 5 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:9687278|RGD:9687546 (Homo sapiens) & RGD:9687278|RGD:9687546 (Homo sapiens)
  • 3 RGD objects have been annotated to X-linked deafness 5  (DOID:0111741)
  • 21 papers in RGD have been used to annotate AIFM1
  • Curation Notes: ClinVar Annotator: match by term: Deafness, X-linked 5
  • Original References(s): PMID:25986071 PMID:28492532


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