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GENE - TERM ANNOTATION REPORT

21 Annotations Found.

An association has been curated linking EBP and X-linked chondrodysplasia punctata 2 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:8562513 (Homo sapiens)
  • 2 RGD objects have been annotated to X-linked chondrodysplasia punctata 2  (DOID:0080352)
  • 9 papers in RGD have been used to annotate EBP
  • Curation Notes: ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant
  • Original References(s): PMID:10391218 PMID:10391219


    • An association has been curated linking EBP and X-linked chondrodysplasia punctata 2 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:8562512 (Homo sapiens)
  • 2 RGD objects have been annotated to X-linked chondrodysplasia punctata 2  (DOID:0080352)
  • 9 papers in RGD have been used to annotate EBP
  • Curation Notes: ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant
  • Original References(s): PMID:10391218


    • An association has been curated linking EBP and X-linked chondrodysplasia punctata 2 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:8562515 (Homo sapiens)
  • 2 RGD objects have been annotated to X-linked chondrodysplasia punctata 2  (DOID:0080352)
  • 9 papers in RGD have been used to annotate EBP
  • Curation Notes: ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant
  • Original References(s): PMID:10391219


    • An association has been curated linking EBP and X-linked chondrodysplasia punctata 2 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:9682437 (Homo sapiens)
  • 2 RGD objects have been annotated to X-linked chondrodysplasia punctata 2  (DOID:0080352)
  • 9 papers in RGD have been used to annotate EBP
  • Curation Notes: ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant
  • Original References(s): PMID:18414213 PMID:20949533


    • An association has been curated linking EBP and X-linked chondrodysplasia punctata 2 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:10404664 (Homo sapiens)
  • 2 RGD objects have been annotated to X-linked chondrodysplasia punctata 2  (DOID:0080352)
  • 9 papers in RGD have been used to annotate EBP
  • Curation Notes: ClinVar Annotator: match by term: Chondrodysplasia punctata 2, X-linked dominant, atypical
  • Original References(s): PMID:22229330


    • An association has been curated linking EBP and X-linked chondrodysplasia punctata 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 2 RGD objects have been annotated to X-linked chondrodysplasia punctata 2  (DOID:0080352)
  • 9 papers in RGD have been used to annotate EBP


    • An association has been curated linking EBP and X-linked chondrodysplasia punctata 2 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:9682454 (Homo sapiens)
  • 2 RGD objects have been annotated to X-linked chondrodysplasia punctata 2  (DOID:0080352)
  • 9 papers in RGD have been used to annotate EBP
  • Curation Notes: ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant
  • Original References(s): PMID:18414213 PMID:28492532


    • An association has been curated linking EBP and X-linked chondrodysplasia punctata 2 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:21074963 (Homo sapiens)
  • 2 RGD objects have been annotated to X-linked chondrodysplasia punctata 2  (DOID:0080352)
  • 9 papers in RGD have been used to annotate EBP
  • Curation Notes: ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant


    • An association has been curated linking EBP and X-linked chondrodysplasia punctata 2 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:8562521 (Homo sapiens)
  • 2 RGD objects have been annotated to X-linked chondrodysplasia punctata 2  (DOID:0080352)
  • 9 papers in RGD have been used to annotate EBP
  • Curation Notes: ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant
  • Original References(s): PMID:10942423 PMID:11493318 PMID:12483303 PMID:1355069 PMID:18414213 PMID:24726177 PMID:25741868 PMID:26075358 PMID:7677157


    • An association has been curated linking EBP and X-linked chondrodysplasia punctata 2 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:153346272 (Homo sapiens)
  • 2 RGD objects have been annotated to X-linked chondrodysplasia punctata 2  (DOID:0080352)
  • 9 papers in RGD have been used to annotate EBP
  • Curation Notes: ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant
  • Original References(s): PMID:10391219 PMID:11982764 PMID:12483303 PMID:22121851 PMID:25741868


    • An association has been curated linking EBP and X-linked chondrodysplasia punctata 2 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:8562514 (Homo sapiens)
  • 2 RGD objects have been annotated to X-linked chondrodysplasia punctata 2  (DOID:0080352)
  • 9 papers in RGD have been used to annotate EBP
  • Curation Notes: ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant
  • Original References(s): PMID:10391219 PMID:11038443 PMID:12503102 PMID:12509714 PMID:18414213 PMID:25741868 PMID:28492532


    • An association has been curated linking EBP and X-linked chondrodysplasia punctata 2 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:9682452 (Homo sapiens)
  • 2 RGD objects have been annotated to X-linked chondrodysplasia punctata 2  (DOID:0080352)
  • 9 papers in RGD have been used to annotate EBP
  • Curation Notes: ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant
  • Original References(s): PMID:10391218 PMID:10710233 PMID:17625999 PMID:18414213 PMID:28492532


    • An association has been curated linking EBP and X-linked chondrodysplasia punctata 2 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:9682440 (Homo sapiens)
  • 2 RGD objects have been annotated to X-linked chondrodysplasia punctata 2  (DOID:0080352)
  • 9 papers in RGD have been used to annotate EBP
  • Curation Notes: ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant
  • Original References(s): PMID:18414213 PMID:24915996 PMID:28492532 PMID:29851033


    • An association has been curated linking EBP and X-linked chondrodysplasia punctata 2 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:21073706 (Homo sapiens)
  • 2 RGD objects have been annotated to X-linked chondrodysplasia punctata 2  (DOID:0080352)
  • 9 papers in RGD have been used to annotate EBP
  • Curation Notes: ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant
  • Original References(s): PMID:10391218 PMID:28492532


    • An association has been curated linking EBP and X-linked chondrodysplasia punctata 2 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:151787342 (Homo sapiens)
  • 2 RGD objects have been annotated to X-linked chondrodysplasia punctata 2  (DOID:0080352)
  • 9 papers in RGD have been used to annotate EBP
  • Curation Notes: ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant
  • Original References(s): PMID:12509714 PMID:17949453 PMID:25741868 PMID:28492532 PMID:30098249


    • An association has been curated linking EBP and X-linked chondrodysplasia punctata 2 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:40903547|RGD:8562516|RGD:8562517 (Homo sapiens) & RGD:40903547|RGD:8562516|RGD:8562517 (Homo sapiens) & RGD:40903547|RGD:8562516|RGD:8562517 (Homo sapiens)
  • 2 RGD objects have been annotated to X-linked chondrodysplasia punctata 2  (DOID:0080352)
  • 9 papers in RGD have been used to annotate EBP
  • Curation Notes: ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant
  • Original References(s): PMID:10942423


    • An association has been curated linking EBP and X-linked chondrodysplasia punctata 2 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:8562518|RGD:8562519|RGD:8562520 (Homo sapiens) & RGD:8562518|RGD:8562519|RGD:8562520 (Homo sapiens) & RGD:8562518|RGD:8562519|RGD:8562520 (Homo sapiens)
  • 2 RGD objects have been annotated to X-linked chondrodysplasia punctata 2  (DOID:0080352)
  • 9 papers in RGD have been used to annotate EBP
  • Curation Notes: ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant
  • Original References(s): PMID:15368506


    • An association has been curated linking EBP and X-linked chondrodysplasia punctata 2 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:10406897|RGD:10406962|RGD:10408242|RGD:9682439|RGD:9682441|RGD:9682442|RGD:9682443|RGD:9682444|RGD:9682445|RGD:9682446|RGD:9682447|RGD:9682448|RGD:9682449|RGD:9682450|RGD:9682451|RGD:9682453|RGD:9682456|RGD:9682457|RGD:9682459|RGD:9682460 (Homo sapiens) & RGD:10406897|RGD:10406962|RGD:10408242|RGD:9682439|RGD:9682441|RGD:9682442|RGD:9682443|RGD:9682444|RGD:9682445|RGD:9682446|RGD:9682447|RGD:9682448|RGD:9682449|RGD:9682450|RGD:9682451|RGD:9682453|RGD:9682456|RGD:9682457|RGD:9682459|RGD:9682460 (Homo sapiens) & RGD:10406897|RGD:10406962|RGD:10408242|RGD:9682439|RGD:9682441|RGD:9682442|RGD:9682443|RGD:9682444|RGD:9682445|RGD:9682446|RGD:9682447|RGD:9682448|RGD:9682449|RGD:9682450|RGD:9682451|RGD:9682453|RGD:9682456|RGD:9682457|RGD:9682459|RGD:9682460 (Homo sapiens) & RGD:10406897|RGD:10406962|RGD:10408242|RGD:9682439|RGD:9682441|RGD:9682442|RGD:9682443|RGD:9682444|RGD:9682445|RGD:9682446|RGD:9682447|RGD:9682448|RGD:9682449|RGD:9682450|RGD:9682451|RGD:9682453|RGD:9682456|RGD:9682457|RGD:9682459|RGD:9682460 (Homo sapiens) & RGD:10406897|RGD:10406962|RGD:10408242|RGD:9682439|RGD:9682441|RGD:9682442|RGD:9682443|RGD:9682444|RGD:9682445|RGD:9682446|RGD:9682447|RGD:9682448|RGD:9682449|RGD:9682450|RGD:9682451|RGD:9682453|RGD:9682456|RGD:9682457|RGD:9682459|RGD:9682460 (Homo sapiens) & RGD:10406897|RGD:10406962|RGD:10408242|RGD:9682439|RGD:9682441|RGD:9682442|RGD:9682443|RGD:9682444|RGD:9682445|RGD:9682446|RGD:9682447|RGD:9682448|RGD:9682449|RGD:9682450|RGD:9682451|RGD:9682453|RGD:9682456|RGD:9682457|RGD:9682459|RGD:9682460 (Homo sapiens) & RGD:10406897|RGD:10406962|RGD:10408242|RGD:9682439|RGD:9682441|RGD:9682442|RGD:9682443|RGD:9682444|RGD:9682445|RGD:9682446|RGD:9682447|RGD:9682448|RGD:9682449|RGD:9682450|RGD:9682451|RGD:9682453|RGD:9682456|RGD:9682457|RGD:9682459|RGD:9682460 (Homo sapiens) & RGD:10406897|RGD:10406962|RGD:10408242|RGD:9682439|RGD:9682441|RGD:9682442|RGD:9682443|RGD:9682444|RGD:9682445|RGD:9682446|RGD:9682447|RGD:9682448|RGD:9682449|RGD:9682450|RGD:9682451|RGD:9682453|RGD:9682456|RGD:9682457|RGD:9682459|RGD:9682460 (Homo sapiens) & RGD:10406897|RGD:10406962|RGD:10408242|RGD:9682439|RGD:9682441|RGD:9682442|RGD:9682443|RGD:9682444|RGD:9682445|RGD:9682446|RGD:9682447|RGD:9682448|RGD:9682449|RGD:9682450|RGD:9682451|RGD:9682453|RGD:9682456|RGD:9682457|RGD:9682459|RGD:9682460 (Homo sapiens) & RGD:10406897|RGD:10406962|RGD:10408242|RGD:9682439|RGD:9682441|RGD:9682442|RGD:9682443|RGD:9682444|RGD:9682445|RGD:9682446|RGD:9682447|RGD:9682448|RGD:9682449|RGD:9682450|RGD:9682451|RGD:9682453|RGD:9682456|RGD:9682457|RGD:9682459|RGD:9682460 (Homo sapiens) & RGD:10406897|RGD:10406962|RGD:10408242|RGD:9682439|RGD:9682441|RGD:9682442|RGD:9682443|RGD:9682444|RGD:9682445|RGD:9682446|RGD:9682447|RGD:9682448|RGD:9682449|RGD:9682450|RGD:9682451|RGD:9682453|RGD:9682456|RGD:9682457|RGD:9682459|RGD:9682460 (Homo sapiens) & RGD:10406897|RGD:10406962|RGD:10408242|RGD:9682439|RGD:9682441|RGD:9682442|RGD:9682443|RGD:9682444|RGD:9682445|RGD:9682446|RGD:9682447|RGD:9682448|RGD:9682449|RGD:9682450|RGD:9682451|RGD:9682453|RGD:9682456|RGD:9682457|RGD:9682459|RGD:9682460 (Homo sapiens) & RGD:10406897|RGD:10406962|RGD:10408242|RGD:9682439|RGD:9682441|RGD:9682442|RGD:9682443|RGD:9682444|RGD:9682445|RGD:9682446|RGD:9682447|RGD:9682448|RGD:9682449|RGD:9682450|RGD:9682451|RGD:9682453|RGD:9682456|RGD:9682457|RGD:9682459|RGD:9682460 (Homo sapiens) & RGD:10406897|RGD:10406962|RGD:10408242|RGD:9682439|RGD:9682441|RGD:9682442|RGD:9682443|RGD:9682444|RGD:9682445|RGD:9682446|RGD:9682447|RGD:9682448|RGD:9682449|RGD:9682450|RGD:9682451|RGD:9682453|RGD:9682456|RGD:9682457|RGD:9682459|RGD:9682460 (Homo sapiens) & RGD:10406897|RGD:10406962|RGD:10408242|RGD:9682439|RGD:9682441|RGD:9682442|RGD:9682443|RGD:9682444|RGD:9682445|RGD:9682446|RGD:9682447|RGD:9682448|RGD:9682449|RGD:9682450|RGD:9682451|RGD:9682453|RGD:9682456|RGD:9682457|RGD:9682459|RGD:9682460 (Homo sapiens) & RGD:10406897|RGD:10406962|RGD:10408242|RGD:9682439|RGD:9682441|RGD:9682442|RGD:9682443|RGD:9682444|RGD:9682445|RGD:9682446|RGD:9682447|RGD:9682448|RGD:9682449|RGD:9682450|RGD:9682451|RGD:9682453|RGD:9682456|RGD:9682457|RGD:9682459|RGD:9682460 (Homo sapiens) & RGD:10406897|RGD:10406962|RGD:10408242|RGD:9682439|RGD:9682441|RGD:9682442|RGD:9682443|RGD:9682444|RGD:9682445|RGD:9682446|RGD:9682447|RGD:9682448|RGD:9682449|RGD:9682450|RGD:9682451|RGD:9682453|RGD:9682456|RGD:9682457|RGD:9682459|RGD:9682460 (Homo sapiens) & RGD:10406897|RGD:10406962|RGD:10408242|RGD:9682439|RGD:9682441|RGD:9682442|RGD:9682443|RGD:9682444|RGD:9682445|RGD:9682446|RGD:9682447|RGD:9682448|RGD:9682449|RGD:9682450|RGD:9682451|RGD:9682453|RGD:9682456|RGD:9682457|RGD:9682459|RGD:9682460 (Homo sapiens) & RGD:10406897|RGD:10406962|RGD:10408242|RGD:9682439|RGD:9682441|RGD:9682442|RGD:9682443|RGD:9682444|RGD:9682445|RGD:9682446|RGD:9682447|RGD:9682448|RGD:9682449|RGD:9682450|RGD:9682451|RGD:9682453|RGD:9682456|RGD:9682457|RGD:9682459|RGD:9682460 (Homo sapiens) & RGD:10406897|RGD:10406962|RGD:10408242|RGD:9682439|RGD:9682441|RGD:9682442|RGD:9682443|RGD:9682444|RGD:9682445|RGD:9682446|RGD:9682447|RGD:9682448|RGD:9682449|RGD:9682450|RGD:9682451|RGD:9682453|RGD:9682456|RGD:9682457|RGD:9682459|RGD:9682460 (Homo sapiens)
  • 2 RGD objects have been annotated to X-linked chondrodysplasia punctata 2  (DOID:0080352)
  • 9 papers in RGD have been used to annotate EBP
  • Curation Notes: ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant
  • Original References(s): PMID:18414213


    • An association has been curated linking EBP and X-linked chondrodysplasia punctata 2 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:10406702|RGD:151351178|RGD:151661818|RGD:21406263|RGD:329395583|RGD:329847845|RGD:401856645 (Homo sapiens) & RGD:10406702|RGD:151351178|RGD:151661818|RGD:21406263|RGD:329395583|RGD:329847845|RGD:401856645 (Homo sapiens) & RGD:10406702|RGD:151351178|RGD:151661818|RGD:21406263|RGD:329395583|RGD:329847845|RGD:401856645 (Homo sapiens) & RGD:10406702|RGD:151351178|RGD:151661818|RGD:21406263|RGD:329395583|RGD:329847845|RGD:401856645 (Homo sapiens) & RGD:10406702|RGD:151351178|RGD:151661818|RGD:21406263|RGD:329395583|RGD:329847845|RGD:401856645 (Homo sapiens) & RGD:10406702|RGD:151351178|RGD:151661818|RGD:21406263|RGD:329395583|RGD:329847845|RGD:401856645 (Homo sapiens) & RGD:10406702|RGD:151351178|RGD:151661818|RGD:21406263|RGD:329395583|RGD:329847845|RGD:401856645 (Homo sapiens)
  • 2 RGD objects have been annotated to X-linked chondrodysplasia punctata 2  (DOID:0080352)
  • 9 papers in RGD have been used to annotate EBP
  • Curation Notes: ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant
  • Original References(s): PMID:25741868


    • An association has been curated linking EBP and X-linked chondrodysplasia punctata 2 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:10449876|RGD:13832819 (Homo sapiens) & RGD:10449876|RGD:13832819 (Homo sapiens)
  • 2 RGD objects have been annotated to X-linked chondrodysplasia punctata 2  (DOID:0080352)
  • 9 papers in RGD have been used to annotate EBP
  • Curation Notes: ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant | ClinVar Annotator: match by term: Hunermann-Conradi Syndrome
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking EBP and X-linked chondrodysplasia punctata 2 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:9682438|RGD:9682458 (Homo sapiens) & RGD:9682438|RGD:9682458 (Homo sapiens)
  • 2 RGD objects have been annotated to X-linked chondrodysplasia punctata 2  (DOID:0080352)
  • 9 papers in RGD have been used to annotate EBP
  • Curation Notes: ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant | ClinVar Annotator: match by term: Happle syndrome
  • Original References(s): PMID:18414213 PMID:25741868 PMID:28492532


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