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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking CFTR and lung disease in Sus scrofa.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with CFTR (Homo sapiens)
  • 2133 RGD objects have been annotated to lung disease  (DOID:850)
  • 0 papers in RGD have been used to annotate CFTR
  • Qualifier: severity
  • Curation Notes: associated with cystic fibrosis;DNA:nonsense mutation: :p.R1162X (human)
  • Original References(s): PMID:1381442 REF_RGD_ID:4140441


  • An association has been curated linking CFTR and lung disease in Sus scrofa.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with CFTR (Homo sapiens)
  • 2133 RGD objects have been annotated to lung disease  (DOID:850)
  • 0 papers in RGD have been used to annotate CFTR
  • Qualifier: severity
  • Curation Notes: associated with cystic fibrosis; DNA:mutation: :p.A455E (human)
  • Original References(s): PMID:7539891 REF_RGD_ID:4140446


  • An association has been curated linking CFTR and lung disease in Sus scrofa.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with CFTR (Homo sapiens)
  • 2133 RGD objects have been annotated to lung disease  (DOID:850)
  • 0 papers in RGD have been used to annotate CFTR
  • Qualifier: severity
  • Curation Notes: DNA:missense mutation:exon: p.D1152H (human)
  • Original References(s): PMID:19843100 REF_RGD_ID:4140397


  • An association has been curated linking CFTR and lung disease in Sus scrofa.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with CFTR (Homo sapiens)
  • 2133 RGD objects have been annotated to lung disease  (DOID:850)
  • 0 papers in RGD have been used to annotate CFTR
  • Qualifier: disease_progression
  • Curation Notes: associated with cystic fibrosis; DNA:mutations: :
  • Original References(s): PMID:19952026 REF_RGD_ID:4140390


  • An association has been curated linking CFTR and lung disease in Sus scrofa.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with CFTR (Homo sapiens)
  • 2133 RGD objects have been annotated to lung disease  (DOID:850)
  • 0 papers in RGD have been used to annotate CFTR
  • Qualifier: onset
  • Curation Notes: associated with cystic fibrosis; DNA:mutation:exon:p.R347P (human)
  • Original References(s): PMID:8535440 REF_RGD_ID:4140448


  • An association has been curated linking CFTR and lung disease in Sus scrofa.        

  • 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 CFTR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2133 RGD objects have been annotated to lung disease  (DOID:850)
  • 0 papers in RGD have been used to annotate CFTR
  • Curation Notes: ClinVar Annotator: match by term: Lung disease, non-specific
  • Original References(s): PMID:10445602 PMID:10653141 PMID:10653145 PMID:10875853 PMID:10922395 PMID:10950058 PMID:12127423 PMID:12454843 PMID:12719375 PMID:12940920 PMID:1379210 PMID:14872121 PMID:15151509 PMID:1545465 PMID:15463907 PMID:15536480 PMID:15705292 PMID:15858154 PMID:15987793 PMID:16049310 PMID:16128988 PMID:16189704 PMID:16251901 PMID:16339147 PMID:16741161 PMID:16915933 PMID:17035430 PMID:17098482 PMID:17098864 PMID:1710599 PMID:17235394 PMID:17329263 PMID:17331079 PMID:17413420 PMID:17489851 PMID:17662673 PMID:18193900 PMID:18306312 PMID:18456578 PMID:18716917 PMID:18951463 PMID:19812525 PMID:19910374 PMID:20021716 PMID:20167849 PMID:20460946 PMID:20538955 PMID:20706124 PMID:20977904 PMID:21131649 PMID:21520337 PMID:22427236 PMID:22678879 PMID:22995991 PMID:23420618 PMID:23751316 PMID:23781395 PMID:23846440 PMID:23891399 PMID:23951356 PMID:23974870 PMID:24033266 PMID:24451227 PMID:24586523 PMID:24624459 PMID:25033378 PMID:25060775 PMID:25489051 PMID:25492507 PMID:25569187 PMID:25741868 PMID:25797027 PMID:25824995 PMID:25826586 PMID:25910067 PMID:26014425 PMID:26089335 PMID:26100556 PMID:26335950 PMID:26436105 PMID:26437683 PMID:26467025 PMID:26500004 PMID:26574590 PMID:26856995 PMID:26990548 PMID:27264265 PMID:27555793 PMID:28194692 PMID:28392015 PMID:28469871 PMID:28492532 PMID:28603918 PMID:28801929 PMID:29174009 PMID:29504914 PMID:29589582 PMID:29805046 PMID:30763667 PMID:30845638 PMID:30888834 PMID:30979466 PMID:31005549 PMID:31213628 PMID:31350925 PMID:31378749 PMID:31674704 PMID:31916691 PMID:32155011 PMID:32357917 PMID:32447501 PMID:32773111 PMID:32784480 PMID:32819855 PMID:33020115 PMID:33097431 PMID:33144682 PMID:33260873 PMID:33341408 PMID:33374015 PMID:33572515 PMID:33613790 PMID:33946859 PMID:34145097 PMID:34350279 PMID:34405919 PMID:34426522 PMID:34525262 PMID:34583889 PMID:34680554 PMID:34888852 PMID:34974990 PMID:34996830 PMID:35011616 PMID:35096544 PMID:35418593 PMID:35527187 PMID:35585144 PMID:35626323 PMID:36264955 PMID:7475569 PMID:7526685 PMID:7529962 PMID:7537150 PMID:7543317 PMID:7739684 PMID:8644755 PMID:9272157 PMID:9797105 PMID:9921909


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