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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Poc1a and Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis in Ictidomys tridecemlineatus.        

  • 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 POC1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  (DOID:9003030)
  • 0 papers in RGD have been used to annotate Poc1a


    • An association has been curated linking Poc1a and Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis in Ictidomys tridecemlineatus.        

  • 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 POC1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  (DOID:9003030)
  • 0 papers in RGD have been used to annotate Poc1a
  • Curation Notes: ClinVar Annotator: match by term: POC1A-related condition | ClinVar Annotator: match by term: SOFT SYNDROME | ClinVar Annotator: match by term: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
  • Original References(s): PMID:18414213 PMID:22440536 PMID:22840363 PMID:22840364 PMID:25558065 PMID:25741868 PMID:26336158 PMID:26374189 PMID:26791357 PMID:28492532 PMID:29095811 PMID:30569574 PMID:31767933 PMID:32552793 PMID:34627339 PMID:35234134


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