Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | G6PC3 | Human | Dursun Syndrome | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dursun syndrome | ClinVar | PMID:28492532 | G6PC3 | Human | Dursun Syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Dursun syndrome | ClinVar | PMID:25741868 and PMID:28492532 | G6PC3 | Human | Dursun Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dursun syndrome | ClinVar | PMID:25741868 | G6PC3 | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | G6PC3 | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | G6PC3 | Human | GRN-related frontotemporal lobar degeneration with TDP43 inclusions | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | ClinVar | PMID:28492532 | G6PC3 | Human | hereditary breast ovarian cancer syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Breast-ovarian cancer more ... | ClinVar | PMID:38922859 | G6PC3 | Human | primary immunodeficiency disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases | ClinVar | PMID:25741868 and PMID:31157858 | G6PC3 | Human | severe congenital neutropenia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Severe congenital neutropenia | ClinVar | | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:19118303 more ... | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:19118303 more ... | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:16199547 more ... | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:19118303 | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:16199547 more ... | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:17576681 more ... | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:17576681 more ... | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:19118303 more ... | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:24549407 more ... | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:17576681 more ... | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:21385794 more ... | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:21385794 more ... | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:19118303 more ... | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:19118303 more ... | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:17576681 more ... | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:19118303 more ... | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:19118303 more ... | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:22469094 more ... | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:25741868 and PMID:31157858 | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:21385794 more ... | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:19118303 more ... | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:21285905 more ... | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:19118303 more ... | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:19118303 and PMID:23758768 | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:19118303 and PMID:25741868 | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:19011569 and PMID:20799326 | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:19118303 more ... | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:19118303 more ... | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:19118303 and PMID:25391451 | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | G6PC3 | Human | severe congenital neutropenia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar | PMID:24033266 more ... | |