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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Col7a1 and nonsyndromic congenital nail disorder 8 in Chinchilla lanigera.        

  • 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 COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to nonsyndromic congenital nail disorder 8  (DOID:0080086)
  • 2 papers in RGD have been used to annotate Col7a1


    • An association has been curated linking Col7a1 and nonsyndromic congenital nail disorder 8 in Chinchilla lanigera.        

  • 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 COL7A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to nonsyndromic congenital nail disorder 8  (DOID:0080086)
  • 2 papers in RGD have been used to annotate Col7a1
  • Curation Notes: ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 8 | ClinVar Annotator: match by term: TOENAIL DYSTROPHY, ISOLATED
  • Original References(s): PMID:10383749 PMID:10408773 PMID:10469344 PMID:10504458 PMID:10836608 PMID:11781296 PMID:11843659 PMID:12485454 PMID:12735646 PMID:12787275 PMID:12813757 PMID:15816848 PMID:15888141 PMID:16271705 PMID:16965329 PMID:16971478 PMID:17425959 PMID:17434045 PMID:17576681 PMID:18429782 PMID:18440202 PMID:18951764 PMID:19344236 PMID:19665875 PMID:19681861 PMID:20357813 PMID:20598510 PMID:20920254 PMID:21269315 PMID:21448560 PMID:21471992 PMID:22058051 PMID:22266148 PMID:23237810 PMID:23947675 PMID:24032424 PMID:24033266 PMID:24210835 PMID:24947307 PMID:25741868 PMID:26076072 PMID:26102279 PMID:26148662 PMID:26467025 PMID:26763448 PMID:27153395 PMID:27899325 PMID:28492532 PMID:28830826 PMID:29473190 PMID:29963685 PMID:30280950 PMID:31001817 PMID:31709745 PMID:31930626 PMID:32860008 PMID:35979658 PMID:7577595 PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 PMID:8755915 PMID:9242516 PMID:9326325 PMID:9536098 PMID:9666834 PMID:9804332 PMID:9856844 PMID:9881948


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