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GENE - TERM ANNOTATION REPORT

11 Annotations Found.

An association has been curated linking ACBD6 and Combined Pituitary Hormone Deficiency 4 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:8559965 (Homo sapiens)
  • 3 RGD objects have been annotated to Combined Pituitary Hormone Deficiency 4  (DOID:9008403)
  • 3 papers in RGD have been used to annotate ACBD6
  • Curation Notes: ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica
  • Original References(s): PMID:11567216


    • An association has been curated linking ACBD6 and Combined Pituitary Hormone Deficiency 4 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:28885355 (Homo sapiens)
  • 3 RGD objects have been annotated to Combined Pituitary Hormone Deficiency 4  (DOID:9008403)
  • 3 papers in RGD have been used to annotate ACBD6
  • Curation Notes: ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects
  • Original References(s): PMID:20534763 PMID:28492532


    • An association has been curated linking ACBD6 and Combined Pituitary Hormone Deficiency 4 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:10042522 (Homo sapiens)
  • 3 RGD objects have been annotated to Combined Pituitary Hormone Deficiency 4  (DOID:9008403)
  • 3 papers in RGD have been used to annotate ACBD6
  • Curation Notes: ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica
  • Original References(s): PMID:23990694 PMID:24033266


    • An association has been curated linking ACBD6 and Combined Pituitary Hormone Deficiency 4 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:155268329 (Homo sapiens)
  • 3 RGD objects have been annotated to Combined Pituitary Hormone Deficiency 4  (DOID:9008403)
  • 3 papers in RGD have been used to annotate ACBD6
  • Curation Notes: ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica
  • Original References(s): PMID:18073311 PMID:25741868


    • An association has been curated linking ACBD6 and Combined Pituitary Hormone Deficiency 4 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:21070519 (Homo sapiens)
  • 3 RGD objects have been annotated to Combined Pituitary Hormone Deficiency 4  (DOID:9008403)
  • 3 papers in RGD have been used to annotate ACBD6
  • Curation Notes: ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica
  • Original References(s): PMID:27820671 PMID:28492532


    • An association has been curated linking ACBD6 and Combined Pituitary Hormone Deficiency 4 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:28885360 (Homo sapiens)
  • 3 RGD objects have been annotated to Combined Pituitary Hormone Deficiency 4  (DOID:9008403)
  • 3 papers in RGD have been used to annotate ACBD6
  • Curation Notes: ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica
  • Original References(s): PMID:17527005 PMID:23990694 PMID:25910213 PMID:28492532


    • An association has been curated linking ACBD6 and Combined Pituitary Hormone Deficiency 4 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:28879900 (Homo sapiens)
  • 3 RGD objects have been annotated to Combined Pituitary Hormone Deficiency 4  (DOID:9008403)
  • 3 papers in RGD have been used to annotate ACBD6
  • Curation Notes: ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica
  • Original References(s): PMID:17201807 PMID:18445675 PMID:25741868 PMID:28492532


    • An association has been curated linking ACBD6 and Combined Pituitary Hormone Deficiency 4 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:13511218|RGD:152979618|RGD:152999230|RGD:21070520|RGD:243054134|RGD:243058577|RGD:38597858 (Homo sapiens) & RGD:13511218|RGD:152979618|RGD:152999230|RGD:21070520|RGD:243054134|RGD:243058577|RGD:38597858 (Homo sapiens) & RGD:13511218|RGD:152979618|RGD:152999230|RGD:21070520|RGD:243054134|RGD:243058577|RGD:38597858 (Homo sapiens) & RGD:13511218|RGD:152979618|RGD:152999230|RGD:21070520|RGD:243054134|RGD:243058577|RGD:38597858 (Homo sapiens) & RGD:13511218|RGD:152979618|RGD:152999230|RGD:21070520|RGD:243054134|RGD:243058577|RGD:38597858 (Homo sapiens) & RGD:13511218|RGD:152979618|RGD:152999230|RGD:21070520|RGD:243054134|RGD:243058577|RGD:38597858 (Homo sapiens) & RGD:13511218|RGD:152979618|RGD:152999230|RGD:21070520|RGD:243054134|RGD:243058577|RGD:38597858 (Homo sapiens)
  • 3 RGD objects have been annotated to Combined Pituitary Hormone Deficiency 4  (DOID:9008403)
  • 3 papers in RGD have been used to annotate ACBD6
  • Curation Notes: ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica
  • Original References(s): PMID:25741868


    • An association has been curated linking ACBD6 and Combined Pituitary Hormone Deficiency 4 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:11578249|RGD:11579364|RGD:13442654 (Homo sapiens) & RGD:11578249|RGD:11579364|RGD:13442654 (Homo sapiens) & RGD:11578249|RGD:11579364|RGD:13442654 (Homo sapiens)
  • 3 RGD objects have been annotated to Combined Pituitary Hormone Deficiency 4  (DOID:9008403)
  • 3 papers in RGD have been used to annotate ACBD6
  • Curation Notes: ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica
  • Original References(s): PMID:28492532


    • An association has been curated linking ACBD6 and Combined Pituitary Hormone Deficiency 4 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:11581339|RGD:11581408|RGD:11582258|RGD:11582438|RGD:11582933|RGD:11585968|RGD:11586695|RGD:11590349|RGD:11590937|RGD:11592505|RGD:11595679|RGD:11596111|RGD:11596609|RGD:150453006|RGD:155644343|RGD:21070517|RGD:28879896|RGD:28885352|RGD:28885362|RGD:28885367|RGD:28890670|RGD:28890675|RGD:28895646|RGD:28895649|RGD:401918765|RGD:8597544|RGD:8597546|RGD:8597547 (Homo sapiens) & RGD:11581339|RGD:11581408|RGD:11582258|RGD:11582438|RGD:11582933|RGD:11585968|RGD:11586695|RGD:11590349|RGD:11590937|RGD:11592505|RGD:11595679|RGD:11596111|RGD:11596609|RGD:150453006|RGD:155644343|RGD:21070517|RGD:28879896|RGD:28885352|RGD:28885362|RGD:28885367|RGD:28890670|RGD:28890675|RGD:28895646|RGD:28895649|RGD:401918765|RGD:8597544|RGD:8597546|RGD:8597547 (Homo sapiens) & RGD:11581339|RGD:11581408|RGD:11582258|RGD:11582438|RGD:11582933|RGD:11585968|RGD:11586695|RGD:11590349|RGD:11590937|RGD:11592505|RGD:11595679|RGD:11596111|RGD:11596609|RGD:150453006|RGD:155644343|RGD:21070517|RGD:28879896|RGD:28885352|RGD:28885362|RGD:28885367|RGD:28890670|RGD:28890675|RGD:28895646|RGD:28895649|RGD:401918765|RGD:8597544|RGD:8597546|RGD:8597547 (Homo sapiens) & RGD:11581339|RGD:11581408|RGD:11582258|RGD:11582438|RGD:11582933|RGD:11585968|RGD:11586695|RGD:11590349|RGD:11590937|RGD:11592505|RGD:11595679|RGD:11596111|RGD:11596609|RGD:150453006|RGD:155644343|RGD:21070517|RGD:28879896|RGD:28885352|RGD:28885362|RGD:28885367|RGD:28890670|RGD:28890675|RGD:28895646|RGD:28895649|RGD:401918765|RGD:8597544|RGD:8597546|RGD:8597547 (Homo sapiens) & RGD:11581339|RGD:11581408|RGD:11582258|RGD:11582438|RGD:11582933|RGD:11585968|RGD:11586695|RGD:11590349|RGD:11590937|RGD:11592505|RGD:11595679|RGD:11596111|RGD:11596609|RGD:150453006|RGD:155644343|RGD:21070517|RGD:28879896|RGD:28885352|RGD:28885362|RGD:28885367|RGD:28890670|RGD:28890675|RGD:28895646|RGD:28895649|RGD:401918765|RGD:8597544|RGD:8597546|RGD:8597547 (Homo sapiens) & RGD:11581339|RGD:11581408|RGD:11582258|RGD:11582438|RGD:11582933|RGD:11585968|RGD:11586695|RGD:11590349|RGD:11590937|RGD:11592505|RGD:11595679|RGD:11596111|RGD:11596609|RGD:150453006|RGD:155644343|RGD:21070517|RGD:28879896|RGD:28885352|RGD:28885362|RGD:28885367|RGD:28890670|RGD:28890675|RGD:28895646|RGD:28895649|RGD:401918765|RGD:8597544|RGD:8597546|RGD:8597547 (Homo sapiens) & RGD:11581339|RGD:11581408|RGD:11582258|RGD:11582438|RGD:11582933|RGD:11585968|RGD:11586695|RGD:11590349|RGD:11590937|RGD:11592505|RGD:11595679|RGD:11596111|RGD:11596609|RGD:150453006|RGD:155644343|RGD:21070517|RGD:28879896|RGD:28885352|RGD:28885362|RGD:28885367|RGD:28890670|RGD:28890675|RGD:28895646|RGD:28895649|RGD:401918765|RGD:8597544|RGD:8597546|RGD:8597547 (Homo sapiens) & RGD:11581339|RGD:11581408|RGD:11582258|RGD:11582438|RGD:11582933|RGD:11585968|RGD:11586695|RGD:11590349|RGD:11590937|RGD:11592505|RGD:11595679|RGD:11596111|RGD:11596609|RGD:150453006|RGD:155644343|RGD:21070517|RGD:28879896|RGD:28885352|RGD:28885362|RGD:28885367|RGD:28890670|RGD:28890675|RGD:28895646|RGD:28895649|RGD:401918765|RGD:8597544|RGD:8597546|RGD:8597547 (Homo sapiens) & RGD:11581339|RGD:11581408|RGD:11582258|RGD:11582438|RGD:11582933|RGD:11585968|RGD:11586695|RGD:11590349|RGD:11590937|RGD:11592505|RGD:11595679|RGD:11596111|RGD:11596609|RGD:150453006|RGD:155644343|RGD:21070517|RGD:28879896|RGD:28885352|RGD:28885362|RGD:28885367|RGD:28890670|RGD:28890675|RGD:28895646|RGD:28895649|RGD:401918765|RGD:8597544|RGD:8597546|RGD:8597547 (Homo sapiens) & RGD:11581339|RGD:11581408|RGD:11582258|RGD:11582438|RGD:11582933|RGD:11585968|RGD:11586695|RGD:11590349|RGD:11590937|RGD:11592505|RGD:11595679|RGD:11596111|RGD:11596609|RGD:150453006|RGD:155644343|RGD:21070517|RGD:28879896|RGD:28885352|RGD:28885362|RGD:28885367|RGD:28890670|RGD:28890675|RGD:28895646|RGD:28895649|RGD:401918765|RGD:8597544|RGD:8597546|RGD:8597547 (Homo sapiens) & RGD:11581339|RGD:11581408|RGD:11582258|RGD:11582438|RGD:11582933|RGD:11585968|RGD:11586695|RGD:11590349|RGD:11590937|RGD:11592505|RGD:11595679|RGD:11596111|RGD:11596609|RGD:150453006|RGD:155644343|RGD:21070517|RGD:28879896|RGD:28885352|RGD:28885362|RGD:28885367|RGD:28890670|RGD:28890675|RGD:28895646|RGD:28895649|RGD:401918765|RGD:8597544|RGD:8597546|RGD:8597547 (Homo sapiens) & RGD:11581339|RGD:11581408|RGD:11582258|RGD:11582438|RGD:11582933|RGD:11585968|RGD:11586695|RGD:11590349|RGD:11590937|RGD:11592505|RGD:11595679|RGD:11596111|RGD:11596609|RGD:150453006|RGD:155644343|RGD:21070517|RGD:28879896|RGD:28885352|RGD:28885362|RGD:28885367|RGD:28890670|RGD:28890675|RGD:28895646|RGD:28895649|RGD:401918765|RGD:8597544|RGD:8597546|RGD:8597547 (Homo sapiens) & RGD:11581339|RGD:11581408|RGD:11582258|RGD:11582438|RGD:11582933|RGD:11585968|RGD:11586695|RGD:11590349|RGD:11590937|RGD:11592505|RGD:11595679|RGD:11596111|RGD:11596609|RGD:150453006|RGD:155644343|RGD:21070517|RGD:28879896|RGD:28885352|RGD:28885362|RGD:28885367|RGD:28890670|RGD:28890675|RGD:28895646|RGD:28895649|RGD:401918765|RGD:8597544|RGD:8597546|RGD:8597547 (Homo sapiens) & RGD:11581339|RGD:11581408|RGD:11582258|RGD:11582438|RGD:11582933|RGD:11585968|RGD:11586695|RGD:11590349|RGD:11590937|RGD:11592505|RGD:11595679|RGD:11596111|RGD:11596609|RGD:150453006|RGD:155644343|RGD:21070517|RGD:28879896|RGD:28885352|RGD:28885362|RGD:28885367|RGD:28890670|RGD:28890675|RGD:28895646|RGD:28895649|RGD:401918765|RGD:8597544|RGD:8597546|RGD:8597547 (Homo sapiens) & RGD:11581339|RGD:11581408|RGD:11582258|RGD:11582438|RGD:11582933|RGD:11585968|RGD:11586695|RGD:11590349|RGD:11590937|RGD:11592505|RGD:11595679|RGD:11596111|RGD:11596609|RGD:150453006|RGD:155644343|RGD:21070517|RGD:28879896|RGD:28885352|RGD:28885362|RGD:28885367|RGD:28890670|RGD:28890675|RGD:28895646|RGD:28895649|RGD:401918765|RGD:8597544|RGD:8597546|RGD:8597547 (Homo sapiens) & RGD:11581339|RGD:11581408|RGD:11582258|RGD:11582438|RGD:11582933|RGD:11585968|RGD:11586695|RGD:11590349|RGD:11590937|RGD:11592505|RGD:11595679|RGD:11596111|RGD:11596609|RGD:150453006|RGD:155644343|RGD:21070517|RGD:28879896|RGD:28885352|RGD:28885362|RGD:28885367|RGD:28890670|RGD:28890675|RGD:28895646|RGD:28895649|RGD:401918765|RGD:8597544|RGD:8597546|RGD:8597547 (Homo sapiens) & RGD:11581339|RGD:11581408|RGD:11582258|RGD:11582438|RGD:11582933|RGD:11585968|RGD:11586695|RGD:11590349|RGD:11590937|RGD:11592505|RGD:11595679|RGD:11596111|RGD:11596609|RGD:150453006|RGD:155644343|RGD:21070517|RGD:28879896|RGD:28885352|RGD:28885362|RGD:28885367|RGD:28890670|RGD:28890675|RGD:28895646|RGD:28895649|RGD:401918765|RGD:8597544|RGD:8597546|RGD:8597547 (Homo sapiens) & RGD:11581339|RGD:11581408|RGD:11582258|RGD:11582438|RGD:11582933|RGD:11585968|RGD:11586695|RGD:11590349|RGD:11590937|RGD:11592505|RGD:11595679|RGD:11596111|RGD:11596609|RGD:150453006|RGD:155644343|RGD:21070517|RGD:28879896|RGD:28885352|RGD:28885362|RGD:28885367|RGD:28890670|RGD:28890675|RGD:28895646|RGD:28895649|RGD:401918765|RGD:8597544|RGD:8597546|RGD:8597547 (Homo sapiens) & RGD:11581339|RGD:11581408|RGD:11582258|RGD:11582438|RGD:11582933|RGD:11585968|RGD:11586695|RGD:11590349|RGD:11590937|RGD:11592505|RGD:11595679|RGD:11596111|RGD:11596609|RGD:150453006|RGD:155644343|RGD:21070517|RGD:28879896|RGD:28885352|RGD:28885362|RGD:28885367|RGD:28890670|RGD:28890675|RGD:28895646|RGD:28895649|RGD:401918765|RGD:8597544|RGD:8597546|RGD:8597547 (Homo sapiens) & RGD:11581339|RGD:11581408|RGD:11582258|RGD:11582438|RGD:11582933|RGD:11585968|RGD:11586695|RGD:11590349|RGD:11590937|RGD:11592505|RGD:11595679|RGD:11596111|RGD:11596609|RGD:150453006|RGD:155644343|RGD:21070517|RGD:28879896|RGD:28885352|RGD:28885362|RGD:28885367|RGD:28890670|RGD:28890675|RGD:28895646|RGD:28895649|RGD:401918765|RGD:8597544|RGD:8597546|RGD:8597547 (Homo sapiens) & RGD:11581339|RGD:11581408|RGD:11582258|RGD:11582438|RGD:11582933|RGD:11585968|RGD:11586695|RGD:11590349|RGD:11590937|RGD:11592505|RGD:11595679|RGD:11596111|RGD:11596609|RGD:150453006|RGD:155644343|RGD:21070517|RGD:28879896|RGD:28885352|RGD:28885362|RGD:28885367|RGD:28890670|RGD:28890675|RGD:28895646|RGD:28895649|RGD:401918765|RGD:8597544|RGD:8597546|RGD:8597547 (Homo sapiens) & RGD:11581339|RGD:11581408|RGD:11582258|RGD:11582438|RGD:11582933|RGD:11585968|RGD:11586695|RGD:11590349|RGD:11590937|RGD:11592505|RGD:11595679|RGD:11596111|RGD:11596609|RGD:150453006|RGD:155644343|RGD:21070517|RGD:28879896|RGD:28885352|RGD:28885362|RGD:28885367|RGD:28890670|RGD:28890675|RGD:28895646|RGD:28895649|RGD:401918765|RGD:8597544|RGD:8597546|RGD:8597547 (Homo sapiens) & RGD:11581339|RGD:11581408|RGD:11582258|RGD:11582438|RGD:11582933|RGD:11585968|RGD:11586695|RGD:11590349|RGD:11590937|RGD:11592505|RGD:11595679|RGD:11596111|RGD:11596609|RGD:150453006|RGD:155644343|RGD:21070517|RGD:28879896|RGD:28885352|RGD:28885362|RGD:28885367|RGD:28890670|RGD:28890675|RGD:28895646|RGD:28895649|RGD:401918765|RGD:8597544|RGD:8597546|RGD:8597547 (Homo sapiens) & RGD:11581339|RGD:11581408|RGD:11582258|RGD:11582438|RGD:11582933|RGD:11585968|RGD:11586695|RGD:11590349|RGD:11590937|RGD:11592505|RGD:11595679|RGD:11596111|RGD:11596609|RGD:150453006|RGD:155644343|RGD:21070517|RGD:28879896|RGD:28885352|RGD:28885362|RGD:28885367|RGD:28890670|RGD:28890675|RGD:28895646|RGD:28895649|RGD:401918765|RGD:8597544|RGD:8597546|RGD:8597547 (Homo sapiens) & RGD:11581339|RGD:11581408|RGD:11582258|RGD:11582438|RGD:11582933|RGD:11585968|RGD:11586695|RGD:11590349|RGD:11590937|RGD:11592505|RGD:11595679|RGD:11596111|RGD:11596609|RGD:150453006|RGD:155644343|RGD:21070517|RGD:28879896|RGD:28885352|RGD:28885362|RGD:28885367|RGD:28890670|RGD:28890675|RGD:28895646|RGD:28895649|RGD:401918765|RGD:8597544|RGD:8597546|RGD:8597547 (Homo sapiens) & RGD:11581339|RGD:11581408|RGD:11582258|RGD:11582438|RGD:11582933|RGD:11585968|RGD:11586695|RGD:11590349|RGD:11590937|RGD:11592505|RGD:11595679|RGD:11596111|RGD:11596609|RGD:150453006|RGD:155644343|RGD:21070517|RGD:28879896|RGD:28885352|RGD:28885362|RGD:28885367|RGD:28890670|RGD:28890675|RGD:28895646|RGD:28895649|RGD:401918765|RGD:8597544|RGD:8597546|RGD:8597547 (Homo sapiens) & RGD:11581339|RGD:11581408|RGD:11582258|RGD:11582438|RGD:11582933|RGD:11585968|RGD:11586695|RGD:11590349|RGD:11590937|RGD:11592505|RGD:11595679|RGD:11596111|RGD:11596609|RGD:150453006|RGD:155644343|RGD:21070517|RGD:28879896|RGD:28885352|RGD:28885362|RGD:28885367|RGD:28890670|RGD:28890675|RGD:28895646|RGD:28895649|RGD:401918765|RGD:8597544|RGD:8597546|RGD:8597547 (Homo sapiens) & RGD:11581339|RGD:11581408|RGD:11582258|RGD:11582438|RGD:11582933|RGD:11585968|RGD:11586695|RGD:11590349|RGD:11590937|RGD:11592505|RGD:11595679|RGD:11596111|RGD:11596609|RGD:150453006|RGD:155644343|RGD:21070517|RGD:28879896|RGD:28885352|RGD:28885362|RGD:28885367|RGD:28890670|RGD:28890675|RGD:28895646|RGD:28895649|RGD:401918765|RGD:8597544|RGD:8597546|RGD:8597547 (Homo sapiens)
  • 3 RGD objects have been annotated to Combined Pituitary Hormone Deficiency 4  (DOID:9008403)
  • 3 papers in RGD have been used to annotate ACBD6
  • Curation Notes: ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica


    • An association has been curated linking ACBD6 and Combined Pituitary Hormone Deficiency 4 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:11543311|RGD:11548912|RGD:15112174 (Homo sapiens) & RGD:11543311|RGD:11548912|RGD:15112174 (Homo sapiens) & RGD:11543311|RGD:11548912|RGD:15112174 (Homo sapiens)
  • 3 RGD objects have been annotated to Combined Pituitary Hormone Deficiency 4  (DOID:9008403)
  • 3 papers in RGD have been used to annotate ACBD6
  • Curation Notes: ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica
  • Original References(s): PMID:25741868 PMID:28492532


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