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GENE - TERM ANNOTATION REPORT

27 Annotations Found.

An association has been curated linking HSPB1 and Charcot-Marie-Tooth disease 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:10408907 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 19 papers in RGD have been used to annotate HSPB1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:12372593 PMID:15122254 PMID:20178975 PMID:21611841 PMID:22176143 PMID:22521462 PMID:24607769 PMID:25547330 PMID:25741868 PMID:26467025 PMID:26989944 PMID:28492532


    • An association has been curated linking HSPB1 and Charcot-Marie-Tooth disease 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:13484107 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 19 papers in RGD have been used to annotate HSPB1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 PMID:9536098


    • An association has been curated linking HSPB1 and Charcot-Marie-Tooth disease 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:14699818 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 19 papers in RGD have been used to annotate HSPB1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:21149811


    • An association has been curated linking HSPB1 and Charcot-Marie-Tooth disease 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:14700243 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 19 papers in RGD have been used to annotate HSPB1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:22206013


    • An association has been curated linking HSPB1 and Charcot-Marie-Tooth disease 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:8559948 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 19 papers in RGD have been used to annotate HSPB1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:15122254 PMID:18325928 PMID:25741868 PMID:28144995 PMID:28492532 PMID:29381233


    • An association has been curated linking HSPB1 and Charcot-Marie-Tooth disease 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:10047522 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 19 papers in RGD have been used to annotate HSPB1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:17623484 PMID:22176143 PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking HSPB1 and Charcot-Marie-Tooth disease 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:13493619 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 19 papers in RGD have been used to annotate HSPB1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532 PMID:32376792


    • An association has been curated linking HSPB1 and Charcot-Marie-Tooth disease 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:10405798 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 19 papers in RGD have been used to annotate HSPB1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:25741868 PMID:28492532 PMID:32376792


    • An association has been curated linking HSPB1 and Charcot-Marie-Tooth disease 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:14699623 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 19 papers in RGD have been used to annotate HSPB1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:21149811 PMID:25741868


    • An association has been curated linking HSPB1 and Charcot-Marie-Tooth disease 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:14699823 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 19 papers in RGD have been used to annotate HSPB1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:18952241 PMID:23643870 PMID:25088881 PMID:28000086 PMID:28492532


    • An association has been curated linking HSPB1 and Charcot-Marie-Tooth disease 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:14699820 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 19 papers in RGD have been used to annotate HSPB1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:22176143 PMID:25741868


    • An association has been curated linking HSPB1 and Charcot-Marie-Tooth disease 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:13610143 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 19 papers in RGD have been used to annotate HSPB1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:18832141 PMID:21971574 PMID:22176143 PMID:22484489 PMID:23379525 PMID:24607769 PMID:24719117 PMID:25741868 PMID:25965061 PMID:25999205 PMID:26077850 PMID:26467025 PMID:27816334 PMID:28144995 PMID:28492532 PMID:28595321 PMID:29381233 PMID:30758704 PMID:31573509 PMID:32301006 PMID:32323160


    • An association has been curated linking HSPB1 and Charcot-Marie-Tooth disease 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:14688161 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 19 papers in RGD have been used to annotate HSPB1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:18344398 PMID:18832141 PMID:21892769 PMID:23948568 PMID:25429913 PMID:25741868 PMID:26467025 PMID:28000086 PMID:28379183 PMID:28492532 PMID:31573509


    • An association has been curated linking HSPB1 and Charcot-Marie-Tooth disease 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:13610155 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 19 papers in RGD have been used to annotate HSPB1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:15122254 PMID:17881652 PMID:18832141 PMID:23963299 PMID:25741868 PMID:27816334 PMID:28492532


    • An association has been curated linking HSPB1 and Charcot-Marie-Tooth disease 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:9684247 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 19 papers in RGD have been used to annotate HSPB1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:15122254 PMID:16215937 PMID:20178975 PMID:20660910 PMID:21983720 PMID:22031878 PMID:23728742 PMID:25025039 PMID:25741868 PMID:26675522 PMID:28492532


    • An association has been curated linking HSPB1 and Charcot-Marie-Tooth disease 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:13470022 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 19 papers in RGD have been used to annotate HSPB1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:20870250 PMID:22176143 PMID:26467025 PMID:26989944 PMID:27862672 PMID:28144995 PMID:28492532


    • An association has been curated linking HSPB1 and Charcot-Marie-Tooth disease 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:10408935 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 19 papers in RGD have been used to annotate HSPB1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:15122254 PMID:22734906 PMID:23728742 PMID:26467025 PMID:27816334 PMID:28077174 PMID:28144995 PMID:28492532 PMID:30373780


    • An association has been curated linking HSPB1 and Charcot-Marie-Tooth disease 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:8559952 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 19 papers in RGD have been used to annotate HSPB1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:18832141 PMID:23530264 PMID:23643870 PMID:24607769 PMID:25741868 PMID:26141737 PMID:26467025 PMID:26752306 PMID:26989944 PMID:27816334 PMID:27830184 PMID:28492532 PMID:28595321 PMID:28702508 PMID:29381233 PMID:29547183


    • An association has been curated linking HSPB1 and Charcot-Marie-Tooth disease 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:10767313 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 19 papers in RGD have been used to annotate HSPB1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:18344398 PMID:18832141 PMID:21892769 PMID:23948568 PMID:25429913 PMID:25741868 PMID:26467025 PMID:27816334 PMID:28000086 PMID:28379183 PMID:28492532 PMID:28797631


    • An association has been curated linking HSPB1 and Charcot-Marie-Tooth disease 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:8559946 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 19 papers in RGD have been used to annotate HSPB1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:11528513 PMID:15122254 PMID:17881652 PMID:18587268 PMID:18832141 PMID:20178975 PMID:21785432 PMID:23963299 PMID:24505562 PMID:25741868 PMID:26467025 PMID:28105056 PMID:28144995 PMID:28492532 PMID:31630804 PMID:32334137 PMID:33943041 PMID:35328016


    • An association has been curated linking HSPB1 and Charcot-Marie-Tooth disease 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:14700244 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 19 papers in RGD have been used to annotate HSPB1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:19435728 PMID:22176143 PMID:22734906 PMID:25741868 PMID:28144995 PMID:28492532 PMID:29381233 PMID:33686258


    • An association has been curated linking HSPB1 and Charcot-Marie-Tooth disease 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:11604627 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 19 papers in RGD have been used to annotate HSPB1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:25741868 PMID:26986878 PMID:28144995 PMID:28492532 PMID:31069529


    • An association has been curated linking HSPB1 and Charcot-Marie-Tooth disease 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:11346617|RGD:11523072|RGD:12845298 (Homo sapiens) & RGD:11346617|RGD:11523072|RGD:12845298 (Homo sapiens) & RGD:11346617|RGD:11523072|RGD:12845298 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 19 papers in RGD have been used to annotate HSPB1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking HSPB1 and Charcot-Marie-Tooth disease 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:14699819|RGD:14699821 (Homo sapiens) & RGD:14699819|RGD:14699821 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 19 papers in RGD have been used to annotate HSPB1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:22176143


    • An association has been curated linking HSPB1 and Charcot-Marie-Tooth disease 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:11543917|RGD:11547371|RGD:11602003|RGD:12837971|RGD:34889532|RGD:34889534|RGD:34889537|RGD:34889538|RGD:34890598|RGD:34890603 (Homo sapiens) & RGD:11543917|RGD:11547371|RGD:11602003|RGD:12837971|RGD:34889532|RGD:34889534|RGD:34889537|RGD:34889538|RGD:34890598|RGD:34890603 (Homo sapiens) & RGD:11543917|RGD:11547371|RGD:11602003|RGD:12837971|RGD:34889532|RGD:34889534|RGD:34889537|RGD:34889538|RGD:34890598|RGD:34890603 (Homo sapiens) & RGD:11543917|RGD:11547371|RGD:11602003|RGD:12837971|RGD:34889532|RGD:34889534|RGD:34889537|RGD:34889538|RGD:34890598|RGD:34890603 (Homo sapiens) & RGD:11543917|RGD:11547371|RGD:11602003|RGD:12837971|RGD:34889532|RGD:34889534|RGD:34889537|RGD:34889538|RGD:34890598|RGD:34890603 (Homo sapiens) & RGD:11543917|RGD:11547371|RGD:11602003|RGD:12837971|RGD:34889532|RGD:34889534|RGD:34889537|RGD:34889538|RGD:34890598|RGD:34890603 (Homo sapiens) & RGD:11543917|RGD:11547371|RGD:11602003|RGD:12837971|RGD:34889532|RGD:34889534|RGD:34889537|RGD:34889538|RGD:34890598|RGD:34890603 (Homo sapiens) & RGD:11543917|RGD:11547371|RGD:11602003|RGD:12837971|RGD:34889532|RGD:34889534|RGD:34889537|RGD:34889538|RGD:34890598|RGD:34890603 (Homo sapiens) & RGD:11543917|RGD:11547371|RGD:11602003|RGD:12837971|RGD:34889532|RGD:34889534|RGD:34889537|RGD:34889538|RGD:34890598|RGD:34890603 (Homo sapiens) & RGD:11543917|RGD:11547371|RGD:11602003|RGD:12837971|RGD:34889532|RGD:34889534|RGD:34889537|RGD:34889538|RGD:34890598|RGD:34890603 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 19 papers in RGD have been used to annotate HSPB1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:25741868


    • An association has been curated linking HSPB1 and Charcot-Marie-Tooth disease 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:11350065|RGD:13211996|RGD:13466551|RGD:13520915|RGD:13610118|RGD:13815189|RGD:34889530|RGD:34889535|RGD:34889540|RGD:34890600 (Homo sapiens) & RGD:11350065|RGD:13211996|RGD:13466551|RGD:13520915|RGD:13610118|RGD:13815189|RGD:34889530|RGD:34889535|RGD:34889540|RGD:34890600 (Homo sapiens) & RGD:11350065|RGD:13211996|RGD:13466551|RGD:13520915|RGD:13610118|RGD:13815189|RGD:34889530|RGD:34889535|RGD:34889540|RGD:34890600 (Homo sapiens) & RGD:11350065|RGD:13211996|RGD:13466551|RGD:13520915|RGD:13610118|RGD:13815189|RGD:34889530|RGD:34889535|RGD:34889540|RGD:34890600 (Homo sapiens) & RGD:11350065|RGD:13211996|RGD:13466551|RGD:13520915|RGD:13610118|RGD:13815189|RGD:34889530|RGD:34889535|RGD:34889540|RGD:34890600 (Homo sapiens) & RGD:11350065|RGD:13211996|RGD:13466551|RGD:13520915|RGD:13610118|RGD:13815189|RGD:34889530|RGD:34889535|RGD:34889540|RGD:34890600 (Homo sapiens) & RGD:11350065|RGD:13211996|RGD:13466551|RGD:13520915|RGD:13610118|RGD:13815189|RGD:34889530|RGD:34889535|RGD:34889540|RGD:34890600 (Homo sapiens) & RGD:11350065|RGD:13211996|RGD:13466551|RGD:13520915|RGD:13610118|RGD:13815189|RGD:34889530|RGD:34889535|RGD:34889540|RGD:34890600 (Homo sapiens) & RGD:11350065|RGD:13211996|RGD:13466551|RGD:13520915|RGD:13610118|RGD:13815189|RGD:34889530|RGD:34889535|RGD:34889540|RGD:34890600 (Homo sapiens) & RGD:11350065|RGD:13211996|RGD:13466551|RGD:13520915|RGD:13610118|RGD:13815189|RGD:34889530|RGD:34889535|RGD:34889540|RGD:34890600 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 19 papers in RGD have been used to annotate HSPB1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking HSPB1 and Charcot-Marie-Tooth disease 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:14699822|RGD:14700061 (Homo sapiens) & RGD:14699822|RGD:14700061 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 19 papers in RGD have been used to annotate HSPB1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:25614874


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