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GENE - TERM ANNOTATION REPORT

9 Annotations Found.

An association has been curated linking IGSF1 and IGSF1 deficiency syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 4 RGD objects have been annotated to IGSF1 deficiency syndrome  (DOID:0111140)
  • 5 papers in RGD have been used to annotate IGSF1


    • An association has been curated linking IGSF1 and IGSF1 deficiency syndrome 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:14976685 (Homo sapiens)
  • 4 RGD objects have been annotated to IGSF1 deficiency syndrome  (DOID:0111140)
  • 5 papers in RGD have been used to annotate IGSF1
  • Curation Notes: ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement
  • Original References(s): PMID:27310681


    • An association has been curated linking IGSF1 and IGSF1 deficiency syndrome 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:14976686 (Homo sapiens)
  • 4 RGD objects have been annotated to IGSF1 deficiency syndrome  (DOID:0111140)
  • 5 papers in RGD have been used to annotate IGSF1
  • Curation Notes: ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement
  • Original References(s): PMID:30086211


    • An association has been curated linking IGSF1 and IGSF1 deficiency syndrome 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:11543737|RGD:11547195|RGD:11549741|RGD:11550087|RGD:150470241|RGD:150488358|RGD:150488543|RGD:150547771|RGD:152999102|RGD:155643347|RGD:155800777|RGD:21074798|RGD:243053575|RGD:243057628|RGD:243057851|RGD:401855335|RGD:404978409|RGD:405701362|RGD:405704358|RGD:405799801 (Homo sapiens) & RGD:11543737|RGD:11547195|RGD:11549741|RGD:11550087|RGD:150470241|RGD:150488358|RGD:150488543|RGD:150547771|RGD:152999102|RGD:155643347|RGD:155800777|RGD:21074798|RGD:243053575|RGD:243057628|RGD:243057851|RGD:401855335|RGD:404978409|RGD:405701362|RGD:405704358|RGD:405799801 (Homo sapiens) & RGD:11543737|RGD:11547195|RGD:11549741|RGD:11550087|RGD:150470241|RGD:150488358|RGD:150488543|RGD:150547771|RGD:152999102|RGD:155643347|RGD:155800777|RGD:21074798|RGD:243053575|RGD:243057628|RGD:243057851|RGD:401855335|RGD:404978409|RGD:405701362|RGD:405704358|RGD:405799801 (Homo sapiens) & RGD:11543737|RGD:11547195|RGD:11549741|RGD:11550087|RGD:150470241|RGD:150488358|RGD:150488543|RGD:150547771|RGD:152999102|RGD:155643347|RGD:155800777|RGD:21074798|RGD:243053575|RGD:243057628|RGD:243057851|RGD:401855335|RGD:404978409|RGD:405701362|RGD:405704358|RGD:405799801 (Homo sapiens) & RGD:11543737|RGD:11547195|RGD:11549741|RGD:11550087|RGD:150470241|RGD:150488358|RGD:150488543|RGD:150547771|RGD:152999102|RGD:155643347|RGD:155800777|RGD:21074798|RGD:243053575|RGD:243057628|RGD:243057851|RGD:401855335|RGD:404978409|RGD:405701362|RGD:405704358|RGD:405799801 (Homo sapiens) & RGD:11543737|RGD:11547195|RGD:11549741|RGD:11550087|RGD:150470241|RGD:150488358|RGD:150488543|RGD:150547771|RGD:152999102|RGD:155643347|RGD:155800777|RGD:21074798|RGD:243053575|RGD:243057628|RGD:243057851|RGD:401855335|RGD:404978409|RGD:405701362|RGD:405704358|RGD:405799801 (Homo sapiens) & RGD:11543737|RGD:11547195|RGD:11549741|RGD:11550087|RGD:150470241|RGD:150488358|RGD:150488543|RGD:150547771|RGD:152999102|RGD:155643347|RGD:155800777|RGD:21074798|RGD:243053575|RGD:243057628|RGD:243057851|RGD:401855335|RGD:404978409|RGD:405701362|RGD:405704358|RGD:405799801 (Homo sapiens) & RGD:11543737|RGD:11547195|RGD:11549741|RGD:11550087|RGD:150470241|RGD:150488358|RGD:150488543|RGD:150547771|RGD:152999102|RGD:155643347|RGD:155800777|RGD:21074798|RGD:243053575|RGD:243057628|RGD:243057851|RGD:401855335|RGD:404978409|RGD:405701362|RGD:405704358|RGD:405799801 (Homo sapiens) & RGD:11543737|RGD:11547195|RGD:11549741|RGD:11550087|RGD:150470241|RGD:150488358|RGD:150488543|RGD:150547771|RGD:152999102|RGD:155643347|RGD:155800777|RGD:21074798|RGD:243053575|RGD:243057628|RGD:243057851|RGD:401855335|RGD:404978409|RGD:405701362|RGD:405704358|RGD:405799801 (Homo sapiens) & RGD:11543737|RGD:11547195|RGD:11549741|RGD:11550087|RGD:150470241|RGD:150488358|RGD:150488543|RGD:150547771|RGD:152999102|RGD:155643347|RGD:155800777|RGD:21074798|RGD:243053575|RGD:243057628|RGD:243057851|RGD:401855335|RGD:404978409|RGD:405701362|RGD:405704358|RGD:405799801 (Homo sapiens) & RGD:11543737|RGD:11547195|RGD:11549741|RGD:11550087|RGD:150470241|RGD:150488358|RGD:150488543|RGD:150547771|RGD:152999102|RGD:155643347|RGD:155800777|RGD:21074798|RGD:243053575|RGD:243057628|RGD:243057851|RGD:401855335|RGD:404978409|RGD:405701362|RGD:405704358|RGD:405799801 (Homo sapiens) & RGD:11543737|RGD:11547195|RGD:11549741|RGD:11550087|RGD:150470241|RGD:150488358|RGD:150488543|RGD:150547771|RGD:152999102|RGD:155643347|RGD:155800777|RGD:21074798|RGD:243053575|RGD:243057628|RGD:243057851|RGD:401855335|RGD:404978409|RGD:405701362|RGD:405704358|RGD:405799801 (Homo sapiens) & RGD:11543737|RGD:11547195|RGD:11549741|RGD:11550087|RGD:150470241|RGD:150488358|RGD:150488543|RGD:150547771|RGD:152999102|RGD:155643347|RGD:155800777|RGD:21074798|RGD:243053575|RGD:243057628|RGD:243057851|RGD:401855335|RGD:404978409|RGD:405701362|RGD:405704358|RGD:405799801 (Homo sapiens) & RGD:11543737|RGD:11547195|RGD:11549741|RGD:11550087|RGD:150470241|RGD:150488358|RGD:150488543|RGD:150547771|RGD:152999102|RGD:155643347|RGD:155800777|RGD:21074798|RGD:243053575|RGD:243057628|RGD:243057851|RGD:401855335|RGD:404978409|RGD:405701362|RGD:405704358|RGD:405799801 (Homo sapiens) & RGD:11543737|RGD:11547195|RGD:11549741|RGD:11550087|RGD:150470241|RGD:150488358|RGD:150488543|RGD:150547771|RGD:152999102|RGD:155643347|RGD:155800777|RGD:21074798|RGD:243053575|RGD:243057628|RGD:243057851|RGD:401855335|RGD:404978409|RGD:405701362|RGD:405704358|RGD:405799801 (Homo sapiens) & RGD:11543737|RGD:11547195|RGD:11549741|RGD:11550087|RGD:150470241|RGD:150488358|RGD:150488543|RGD:150547771|RGD:152999102|RGD:155643347|RGD:155800777|RGD:21074798|RGD:243053575|RGD:243057628|RGD:243057851|RGD:401855335|RGD:404978409|RGD:405701362|RGD:405704358|RGD:405799801 (Homo sapiens) & RGD:11543737|RGD:11547195|RGD:11549741|RGD:11550087|RGD:150470241|RGD:150488358|RGD:150488543|RGD:150547771|RGD:152999102|RGD:155643347|RGD:155800777|RGD:21074798|RGD:243053575|RGD:243057628|RGD:243057851|RGD:401855335|RGD:404978409|RGD:405701362|RGD:405704358|RGD:405799801 (Homo sapiens) & RGD:11543737|RGD:11547195|RGD:11549741|RGD:11550087|RGD:150470241|RGD:150488358|RGD:150488543|RGD:150547771|RGD:152999102|RGD:155643347|RGD:155800777|RGD:21074798|RGD:243053575|RGD:243057628|RGD:243057851|RGD:401855335|RGD:404978409|RGD:405701362|RGD:405704358|RGD:405799801 (Homo sapiens) & RGD:11543737|RGD:11547195|RGD:11549741|RGD:11550087|RGD:150470241|RGD:150488358|RGD:150488543|RGD:150547771|RGD:152999102|RGD:155643347|RGD:155800777|RGD:21074798|RGD:243053575|RGD:243057628|RGD:243057851|RGD:401855335|RGD:404978409|RGD:405701362|RGD:405704358|RGD:405799801 (Homo sapiens) & RGD:11543737|RGD:11547195|RGD:11549741|RGD:11550087|RGD:150470241|RGD:150488358|RGD:150488543|RGD:150547771|RGD:152999102|RGD:155643347|RGD:155800777|RGD:21074798|RGD:243053575|RGD:243057628|RGD:243057851|RGD:401855335|RGD:404978409|RGD:405701362|RGD:405704358|RGD:405799801 (Homo sapiens)
  • 4 RGD objects have been annotated to IGSF1 deficiency syndrome  (DOID:0111140)
  • 5 papers in RGD have been used to annotate IGSF1
  • Curation Notes: ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement
  • Original References(s): PMID:25741868


    • An association has been curated linking IGSF1 and IGSF1 deficiency syndrome 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:126739386 (Homo sapiens)
  • 4 RGD objects have been annotated to IGSF1 deficiency syndrome  (DOID:0111140)
  • 5 papers in RGD have been used to annotate IGSF1
  • Curation Notes: ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement
  • Original References(s): PMID:23966245 PMID:25741868


    • An association has been curated linking IGSF1 and IGSF1 deficiency syndrome 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:8604396|RGD:8604397|RGD:8604398|RGD:8604399|RGD:8604400 (Homo sapiens) & RGD:8604396|RGD:8604397|RGD:8604398|RGD:8604399|RGD:8604400 (Homo sapiens) & RGD:8604396|RGD:8604397|RGD:8604398|RGD:8604399|RGD:8604400 (Homo sapiens) & RGD:8604396|RGD:8604397|RGD:8604398|RGD:8604399|RGD:8604400 (Homo sapiens) & RGD:8604396|RGD:8604397|RGD:8604398|RGD:8604399|RGD:8604400 (Homo sapiens)
  • 4 RGD objects have been annotated to IGSF1 deficiency syndrome  (DOID:0111140)
  • 5 papers in RGD have been used to annotate IGSF1
  • Curation Notes: ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement
  • Original References(s): PMID:23143598


    • An association has been curated linking IGSF1 and IGSF1 deficiency syndrome in Homo sapiens.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Igsf1 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to IGSF1 deficiency syndrome  (DOID:0111140)
  • 5 papers in RGD have been used to annotate IGSF1
  • Curation Notes: OMIM:300888


    • An association has been curated linking IGSF1 and IGSF1 deficiency syndrome 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:151662262 (Homo sapiens)
  • 4 RGD objects have been annotated to IGSF1 deficiency syndrome  (DOID:0111140)
  • 5 papers in RGD have been used to annotate IGSF1
  • Curation Notes: ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement


    • An association has been curated linking IGSF1 and IGSF1 deficiency syndrome 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:15175382 (Homo sapiens)
  • 4 RGD objects have been annotated to IGSF1 deficiency syndrome  (DOID:0111140)
  • 5 papers in RGD have been used to annotate IGSF1
  • Curation Notes: ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement
  • Original References(s): PMID:25741868 PMID:28492532


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