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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking Mpz and Charcot-Marie-Tooth disease type 2J in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with MPZ (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Charcot-Marie-Tooth disease type 2J  (DOID:0110157)
  • 17 papers in CRRD have been used to annotate Mpz


  • An association has been curated linking Mpz and Charcot-Marie-Tooth disease type 2J in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with MPZ (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Charcot-Marie-Tooth disease type 2J  (DOID:0110157)
  • 17 papers in CRRD have been used to annotate Mpz
  • Curation Notes: ClinVar Annotator: match by OMIM:607736
  • Original References(s): PMID:17663472


  • An association has been curated linking Mpz and Charcot-Marie-Tooth disease type 2J in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with MPZ (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Charcot-Marie-Tooth disease type 2J  (DOID:0110157)
  • 17 papers in CRRD have been used to annotate Mpz
  • Curation Notes: ClinVar Annotator: match by OMIM:607736
  • Original References(s): PMID:15326256


  • An association has been curated linking Mpz and Charcot-Marie-Tooth disease type 2J in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with MPZ (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Charcot-Marie-Tooth disease type 2J  (DOID:0110157)
  • 17 papers in CRRD have been used to annotate Mpz
  • Curation Notes: ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2J
  • Original References(s): PMID:11545686, PMID:15241803, PMID:25741868, PMID:26467025, PMID:28492532, PMID:8664899, PMID:9187667


  • An association has been curated linking Mpz and Charcot-Marie-Tooth disease type 2J in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with MPZ (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Charcot-Marie-Tooth disease type 2J  (DOID:0110157)
  • 17 papers in CRRD have been used to annotate Mpz
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2J
  • Original References(s): PMID:10071056, PMID:10329755, PMID:10764043, PMID:10923043, PMID:11080237, PMID:12207153, PMID:12911457, PMID:12948789, PMID:15159512, PMID:15377707, PMID:16279991, PMID:16775239, PMID:18337304, PMID:19629567, PMID:20461396, PMID:25720167, PMID:25741868, PMID:26234237, PMID:26467025, PMID:28492532, PMID:9452091


  • An association has been curated linking Mpz and Charcot-Marie-Tooth disease type 2J in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with MPZ (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Charcot-Marie-Tooth disease type 2J  (DOID:0110157)
  • 17 papers in CRRD have been used to annotate Mpz
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2J
  • Original References(s): PMID:11080237, PMID:12402337, PMID:20461396, PMID:28492532


  • An association has been curated linking Mpz and Charcot-Marie-Tooth disease type 2J in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with MPZ (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Charcot-Marie-Tooth disease type 2J  (DOID:0110157)
  • 17 papers in CRRD have been used to annotate Mpz
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities
  • Original References(s): PMID:10737979, PMID:12953275, PMID:15094849, PMID:25741868, PMID:26467025, PMID:28492532, PMID:7527371


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