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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking MMP13 and Metaphyseal Anadysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Lausch E, etal., Am J Hum Genet. 2009 Aug;85(2):168-78. doi: 10.1016/j.ajhg.2009.06.014. Epub 2009 Jul 16.
  • 5 additional annotations were made from Lausch E, etal., Am J Hum Genet. 2009 Aug;85(2):168-78. doi: 10.1016/j.ajhg.2009.06.014. Epub 2009 Jul 16.
  • 5 RGD objects have been annotated to Metaphyseal Anadysplasia  (DOID:9001193)
  • 53 papers in RGD have been used to annotate MMP13
  • Curation Notes: DNA:missense mutations: :p.F55S, p.M72T, p.H213N (human)


    • An association has been curated linking MMP13 and Metaphyseal Anadysplasia 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:10051503|RGD:11600374|RGD:11601468|RGD:11602402|RGD:11604853|RGD:11605964|RGD:11606688|RGD:11607951|RGD:11613719|RGD:11614366|RGD:11614668|RGD:11617800|RGD:11618319|RGD:11619988|RGD:15197278|RGD:28900229|RGD:28906547|RGD:28906693|RGD:28910091|RGD:28910092 (Homo sapiens) & RGD:10051503|RGD:11600374|RGD:11601468|RGD:11602402|RGD:11604853|RGD:11605964|RGD:11606688|RGD:11607951|RGD:11613719|RGD:11614366|RGD:11614668|RGD:11617800|RGD:11618319|RGD:11619988|RGD:15197278|RGD:28900229|RGD:28906547|RGD:28906693|RGD:28910091|RGD:28910092 (Homo sapiens) & RGD:10051503|RGD:11600374|RGD:11601468|RGD:11602402|RGD:11604853|RGD:11605964|RGD:11606688|RGD:11607951|RGD:11613719|RGD:11614366|RGD:11614668|RGD:11617800|RGD:11618319|RGD:11619988|RGD:15197278|RGD:28900229|RGD:28906547|RGD:28906693|RGD:28910091|RGD:28910092 (Homo sapiens) & RGD:10051503|RGD:11600374|RGD:11601468|RGD:11602402|RGD:11604853|RGD:11605964|RGD:11606688|RGD:11607951|RGD:11613719|RGD:11614366|RGD:11614668|RGD:11617800|RGD:11618319|RGD:11619988|RGD:15197278|RGD:28900229|RGD:28906547|RGD:28906693|RGD:28910091|RGD:28910092 (Homo sapiens) & RGD:10051503|RGD:11600374|RGD:11601468|RGD:11602402|RGD:11604853|RGD:11605964|RGD:11606688|RGD:11607951|RGD:11613719|RGD:11614366|RGD:11614668|RGD:11617800|RGD:11618319|RGD:11619988|RGD:15197278|RGD:28900229|RGD:28906547|RGD:28906693|RGD:28910091|RGD:28910092 (Homo sapiens) & RGD:10051503|RGD:11600374|RGD:11601468|RGD:11602402|RGD:11604853|RGD:11605964|RGD:11606688|RGD:11607951|RGD:11613719|RGD:11614366|RGD:11614668|RGD:11617800|RGD:11618319|RGD:11619988|RGD:15197278|RGD:28900229|RGD:28906547|RGD:28906693|RGD:28910091|RGD:28910092 (Homo sapiens) & RGD:10051503|RGD:11600374|RGD:11601468|RGD:11602402|RGD:11604853|RGD:11605964|RGD:11606688|RGD:11607951|RGD:11613719|RGD:11614366|RGD:11614668|RGD:11617800|RGD:11618319|RGD:11619988|RGD:15197278|RGD:28900229|RGD:28906547|RGD:28906693|RGD:28910091|RGD:28910092 (Homo sapiens) & RGD:10051503|RGD:11600374|RGD:11601468|RGD:11602402|RGD:11604853|RGD:11605964|RGD:11606688|RGD:11607951|RGD:11613719|RGD:11614366|RGD:11614668|RGD:11617800|RGD:11618319|RGD:11619988|RGD:15197278|RGD:28900229|RGD:28906547|RGD:28906693|RGD:28910091|RGD:28910092 (Homo sapiens) & RGD:10051503|RGD:11600374|RGD:11601468|RGD:11602402|RGD:11604853|RGD:11605964|RGD:11606688|RGD:11607951|RGD:11613719|RGD:11614366|RGD:11614668|RGD:11617800|RGD:11618319|RGD:11619988|RGD:15197278|RGD:28900229|RGD:28906547|RGD:28906693|RGD:28910091|RGD:28910092 (Homo sapiens) & RGD:10051503|RGD:11600374|RGD:11601468|RGD:11602402|RGD:11604853|RGD:11605964|RGD:11606688|RGD:11607951|RGD:11613719|RGD:11614366|RGD:11614668|RGD:11617800|RGD:11618319|RGD:11619988|RGD:15197278|RGD:28900229|RGD:28906547|RGD:28906693|RGD:28910091|RGD:28910092 (Homo sapiens) & RGD:10051503|RGD:11600374|RGD:11601468|RGD:11602402|RGD:11604853|RGD:11605964|RGD:11606688|RGD:11607951|RGD:11613719|RGD:11614366|RGD:11614668|RGD:11617800|RGD:11618319|RGD:11619988|RGD:15197278|RGD:28900229|RGD:28906547|RGD:28906693|RGD:28910091|RGD:28910092 (Homo sapiens) & RGD:10051503|RGD:11600374|RGD:11601468|RGD:11602402|RGD:11604853|RGD:11605964|RGD:11606688|RGD:11607951|RGD:11613719|RGD:11614366|RGD:11614668|RGD:11617800|RGD:11618319|RGD:11619988|RGD:15197278|RGD:28900229|RGD:28906547|RGD:28906693|RGD:28910091|RGD:28910092 (Homo sapiens) & RGD:10051503|RGD:11600374|RGD:11601468|RGD:11602402|RGD:11604853|RGD:11605964|RGD:11606688|RGD:11607951|RGD:11613719|RGD:11614366|RGD:11614668|RGD:11617800|RGD:11618319|RGD:11619988|RGD:15197278|RGD:28900229|RGD:28906547|RGD:28906693|RGD:28910091|RGD:28910092 (Homo sapiens) & RGD:10051503|RGD:11600374|RGD:11601468|RGD:11602402|RGD:11604853|RGD:11605964|RGD:11606688|RGD:11607951|RGD:11613719|RGD:11614366|RGD:11614668|RGD:11617800|RGD:11618319|RGD:11619988|RGD:15197278|RGD:28900229|RGD:28906547|RGD:28906693|RGD:28910091|RGD:28910092 (Homo sapiens) & RGD:10051503|RGD:11600374|RGD:11601468|RGD:11602402|RGD:11604853|RGD:11605964|RGD:11606688|RGD:11607951|RGD:11613719|RGD:11614366|RGD:11614668|RGD:11617800|RGD:11618319|RGD:11619988|RGD:15197278|RGD:28900229|RGD:28906547|RGD:28906693|RGD:28910091|RGD:28910092 (Homo sapiens) & RGD:10051503|RGD:11600374|RGD:11601468|RGD:11602402|RGD:11604853|RGD:11605964|RGD:11606688|RGD:11607951|RGD:11613719|RGD:11614366|RGD:11614668|RGD:11617800|RGD:11618319|RGD:11619988|RGD:15197278|RGD:28900229|RGD:28906547|RGD:28906693|RGD:28910091|RGD:28910092 (Homo sapiens) & RGD:10051503|RGD:11600374|RGD:11601468|RGD:11602402|RGD:11604853|RGD:11605964|RGD:11606688|RGD:11607951|RGD:11613719|RGD:11614366|RGD:11614668|RGD:11617800|RGD:11618319|RGD:11619988|RGD:15197278|RGD:28900229|RGD:28906547|RGD:28906693|RGD:28910091|RGD:28910092 (Homo sapiens) & RGD:10051503|RGD:11600374|RGD:11601468|RGD:11602402|RGD:11604853|RGD:11605964|RGD:11606688|RGD:11607951|RGD:11613719|RGD:11614366|RGD:11614668|RGD:11617800|RGD:11618319|RGD:11619988|RGD:15197278|RGD:28900229|RGD:28906547|RGD:28906693|RGD:28910091|RGD:28910092 (Homo sapiens) & RGD:10051503|RGD:11600374|RGD:11601468|RGD:11602402|RGD:11604853|RGD:11605964|RGD:11606688|RGD:11607951|RGD:11613719|RGD:11614366|RGD:11614668|RGD:11617800|RGD:11618319|RGD:11619988|RGD:15197278|RGD:28900229|RGD:28906547|RGD:28906693|RGD:28910091|RGD:28910092 (Homo sapiens) & RGD:10051503|RGD:11600374|RGD:11601468|RGD:11602402|RGD:11604853|RGD:11605964|RGD:11606688|RGD:11607951|RGD:11613719|RGD:11614366|RGD:11614668|RGD:11617800|RGD:11618319|RGD:11619988|RGD:15197278|RGD:28900229|RGD:28906547|RGD:28906693|RGD:28910091|RGD:28910092 (Homo sapiens)
  • 5 RGD objects have been annotated to Metaphyseal Anadysplasia  (DOID:9001193)
  • 53 papers in RGD have been used to annotate MMP13
  • Curation Notes: ClinVar Annotator: match by term: Metaphyseal anadysplasia
  • Original References(s): PMID:28492532


    • An association has been curated linking MMP13 and Metaphyseal Anadysplasia 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:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens) & RGD:11598887|RGD:11603047|RGD:11603876|RGD:11604080|RGD:11606914|RGD:11607328|RGD:11607777|RGD:11608689|RGD:11616840|RGD:11617090|RGD:11620246|RGD:11635546|RGD:11644905|RGD:11645617|RGD:11649400|RGD:11649712|RGD:11650470|RGD:11653235|RGD:11653823|RGD:11654390|RGD:28899830|RGD:28900225|RGD:28906204|RGD:28906208|RGD:28906378|RGD:28906382|RGD:28906385|RGD:28909885|RGD:28909889|RGD:28909993|RGD:28909995 (Homo sapiens)
  • 5 RGD objects have been annotated to Metaphyseal Anadysplasia  (DOID:9001193)
  • 53 papers in RGD have been used to annotate MMP13
  • Curation Notes: ClinVar Annotator: match by term: Metaphyseal anadysplasia


    • An association has been curated linking MMP13 and Metaphyseal Anadysplasia 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:11601596|RGD:11613363 (Homo sapiens) & RGD:11601596|RGD:11613363 (Homo sapiens)
  • 5 RGD objects have been annotated to Metaphyseal Anadysplasia  (DOID:9001193)
  • 53 papers in RGD have been used to annotate MMP13
  • Curation Notes: ClinVar Annotator: match by term: Metaphyseal anadysplasia
  • Original References(s): PMID:25741868 PMID:28492532


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