Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | coloboma | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by term: Coloboma | ClinVar | | intellectual disability | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | microcephaly | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:32581362 | microcephaly | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by term: Primary Microcephaly, Recessive | ClinVar | PMID:18414213, PMID:28492532 | microcephaly | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by term: Primary Microcephaly, Recessive | ClinVar | PMID:28492532 | microcephaly | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by term: Primary Microcephaly, Recessive | ClinVar | PMID:25741868, PMID:28492532 | microcephaly | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by term: Primary Microcephaly, Recessive | ClinVar | | microcephaly | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by term: Primary Microcephaly, Recessive | ClinVar | PMID:18414213, PMID:25741868 | microcephaly | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by term: Primary Microcephaly, Recessive | ClinVar | PMID:18414213 | microcephaly | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by term: Primary Microcephaly, Recessive | ClinVar | PMID:25741868 | primary autosomal recessive microcephaly 3 | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 3 | ClinVar | PMID:18414213 more ... | primary autosomal recessive microcephaly 3 | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 3 | ClinVar | PMID:23995685, PMID:25741868 | primary autosomal recessive microcephaly 3 | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 3 | ClinVar | PMID:27391121, PMID:28492532 | primary autosomal recessive microcephaly 3 | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 3 | ClinVar | PMID:25741868, PMID:28004182 | primary autosomal recessive microcephaly 3 | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 3 | ClinVar | PMID:28492532 | primary autosomal recessive microcephaly 3 | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 3 | ClinVar | PMID:18414213, PMID:28492532 | primary autosomal recessive microcephaly 3 | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 3 | ClinVar | PMID:25741868, PMID:28492532 | primary autosomal recessive microcephaly 3 | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by OMIM:604804 | ClinVar | PMID:15793586 more ... | primary autosomal recessive microcephaly 3 | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 3 | ClinVar | PMID:18414213, PMID:25741868 | primary autosomal recessive microcephaly 3 | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by OMIM:604804 | ClinVar | PMID:22887808 | primary autosomal recessive microcephaly 3 | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by OMIM:604804 | ClinVar | PMID:10677332 more ... | primary autosomal recessive microcephaly 3 | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by OMIM:604804 | ClinVar | PMID:18414213, PMID:23726037 | primary autosomal recessive microcephaly 3 | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by OMIM:604804 | ClinVar | PMID:18414213, PMID:25326637 | primary autosomal recessive microcephaly 3 | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by OMIM:604804 | ClinVar | PMID:15793586 | primary autosomal recessive microcephaly 3 | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by OMIM:604804 | ClinVar | PMID:25741868 | primary autosomal recessive microcephaly 3 | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by OMIM:604804 | ClinVar | PMID:18414213 | primary autosomal recessive microcephaly 3 | | ISO | RGD:1347674 | 8554872 | ClinVar Annotator: match by OMIM:604804 | ClinVar | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function
Disease Annotations
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References
References - curated
Additional References at PubMed
| PMID:14654843 | PMID:17920017 | PMID:17959831 | PMID:18042621 | PMID:19056867 | PMID:19282672 | PMID:19543530 | PMID:19553473 | PMID:20460369 | PMID:20466722 | PMID:20471352 | PMID:20627074 |
| PMID:21399614 | PMID:22179047 | PMID:23376485 | PMID:25220058 | PMID:25657325 | PMID:26297806 | PMID:26485573 | PMID:26550838 | PMID:28057765 | PMID:29162697 |
Genomics
