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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Tmem67 and Meckel syndrome 1 in Mus musculus.        

  • 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 TMEM67 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 15 RGD objects have been annotated to Meckel syndrome 1  (DOID:0070115)
  • 24 papers in RGD have been used to annotate Tmem67
  • Curation Notes: ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1
  • Original References(s): PMID:17377820 PMID:17397051 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:24033266 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28492532 PMID:29891882 PMID:9375913


  • An association has been curated linking Tmem67 and Meckel syndrome 1 in Mus musculus.        

  • 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 TMEM67 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 15 RGD objects have been annotated to Meckel syndrome 1  (DOID:0070115)
  • 24 papers in RGD have been used to annotate Tmem67
  • Curation Notes: ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome
  • Original References(s): PMID:17160906 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:22700954 PMID:23034536 PMID:23351400 PMID:23559409 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28125082 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28973083 PMID:29127258 PMID:29146704 PMID:2929661 PMID:29891882 PMID:34964473 PMID:9375913 PMID:9536098


  • An association has been curated linking Tmem67 and Meckel syndrome 1 in Mus musculus.        

  • 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 TMEM67 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 15 RGD objects have been annotated to Meckel syndrome 1  (DOID:0070115)
  • 24 papers in RGD have been used to annotate Tmem67
  • Curation Notes: ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome
  • Original References(s): PMID:17160906 PMID:17377820 PMID:17397051 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:22700954 PMID:23034536 PMID:23351400 PMID:23559409 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28125082 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28973083 PMID:29127258 PMID:29146704 PMID:2929661 PMID:29891882 PMID:9375913


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