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Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CFB | Human | age related macular degeneration 14 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Age related macular degeneration 14 | ClinVar | | CFB | Human | age related macular degeneration 14 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Age related macular degeneration 14 | ClinVar | PMID:28492532 | CFB | Human | age related macular degeneration 14 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Age related macular degeneration 14 | ClinVar | PMID:25741868 and PMID:28492532 | CFB | Human | age related macular degeneration 14 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Age related macular degeneration 14 | ClinVar | PMID:20513133 more ... | CFB | Human | age related macular degeneration 14 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Age related macular degeneration 14 | ClinVar | PMID:20108004 more ... | CFB | Human | age related macular degeneration 14 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Age related macular degeneration 14 | ClinVar | PMID:16518403 more ... | CFB | Human | age related macular degeneration 14 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Age related macular degeneration 14 | ClinVar | PMID:16518403 more ... | CFB | Human | age related macular degeneration 14 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Age related macular degeneration 14 | ClinVar | PMID:25741868 | CFB | Human | age related macular degeneration 14 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Age related macular degeneration 14 | ClinVar | PMID:21541267 more ... | CFB | Human | atypical hemolytic-uremic syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | CFB | Human | atypical hemolytic-uremic syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 | CFB | Human | atypical hemolytic-uremic syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | CFB | Human | atypical hemolytic-uremic syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AHUS more ... | ClinVar | PMID:20513133 more ... | CFB | Human | atypical hemolytic-uremic syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | CFB | Human | atypical hemolytic-uremic syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AHUS more ... | ClinVar | PMID:20513133 more ... | CFB | Human | atypical hemolytic-uremic syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AHUS more ... | ClinVar | PMID:21541267 more ... | CFB | Human | atypical hemolytic-uremic syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AHUS more ... | ClinVar | PMID:16518403 more ... | CFB | Human | atypical hemolytic-uremic syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AHUS more ... | ClinVar | PMID:16518403 more ... | CFB | Human | atypical hemolytic-uremic syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AHUS more ... | ClinVar | PMID:15661753 and PMID:17182750 | CFB | Human | atypical hemolytic-uremic syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AHUS more ... | ClinVar | PMID:15661753 more ... | CFB | Human | atypical hemolytic-uremic syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AHUS more ... | ClinVar | PMID:24652797 more ... | CFB | Human | atypical hemolytic-uremic syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | | CFB | Human | atypical hemolytic-uremic syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AHUS more ... | ClinVar | PMID:20108004 more ... | CFB | Human | atypical hemolytic-uremic syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AHUS more ... | ClinVar | PMID:23847193 more ... | CFB | Human | atypical hemolytic-uremic syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | CFB | Human | complement component 2 deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | CFB | Human | complement component 2 deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: C2 deficiency | ClinVar | PMID:16518403 more ... | CFB | Human | complement component 2 deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Complement component 2 deficiency | ClinVar | PMID:16518403 more ... | CFB | Human | complement component 2 deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: C2 deficiency | ClinVar | PMID:21541267 more ... | CFB | Human | complement component 2 deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Complement component 2 deficiency | ClinVar | PMID:20108004 more ... | CFB | Human | complement component 2 deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Complement component 2 deficiency | ClinVar | | CFB | Human | complement component 2 deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: C2 deficiency | ClinVar | PMID:23847193 more ... | CFB | Human | complement component 2 deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Complement component 2 deficiency | ClinVar | PMID:28492532 | CFB | Human | Complement Factor B Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Complement factor b deficiency | ClinVar | PMID:24152280 | CFB | Human | Complement Factor B Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Complement factor b deficiency | ClinVar | PMID:24152280 and PMID:28492532 | CFB | Human | Complement Factor B Deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | CFB | Human | Complement Factor B Deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Complement factor b deficiency | ClinVar | PMID:25741868 | CFB | Human | Complement Factor B Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Complement factor b deficiency | ClinVar | PMID:20513133 more ... | CFB | Human | Complement Factor B Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Complement factor b deficiency | ClinVar | PMID:16518403 more ... | CFB | Human | Complement Factor B Deficiency | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Complement factor b deficiency | ClinVar | | CFB | Human | Complement Factor B Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Complement factor b deficiency | ClinVar | PMID:21541267 more ... | CFB | Human | Complement Factor B Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Complement factor b deficiency | ClinVar | PMID:20108004 more ... | CFB | Human | Complement Factor B Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Complement factor b deficiency | ClinVar | PMID:23847193 more ... | CFB | Human | focal segmental glomerulosclerosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar | PMID:16518403 more ... | CFB | Human | focal segmental glomerulosclerosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar | PMID:21541267 more ... | CFB | Human | focal segmental glomerulosclerosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar | PMID:25741868 and PMID:28492532 | CFB | Human | focal segmental glomerulosclerosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Focal sclerosis with hyalinosis | ClinVar | PMID:21541267 more ... | CFB | Human | focal segmental glomerulosclerosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Focal sclerosis with hyalinosis | ClinVar | PMID:16518403 more ... | CFB | Human | focal segmental glomerulosclerosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Focal sclerosis with hyalinosis | ClinVar | PMID:25741868 and PMID:28492532 | CFB | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | CFB | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | CFB | Human | kidney disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kidney disease | ClinVar | PMID:23847193 more ... | CFB | Human | kidney disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | CFB | Human | macular degeneration | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Macular degeneration | ClinVar | PMID:28492532 | CFB | Human | macular degeneration | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Macular degeneration | ClinVar | | CFB | Human | macular degeneration | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Macular degeneration | ClinVar | PMID:20513133 more ... | CFB | Human | macular degeneration | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Macular degeneration | ClinVar | PMID:25741868 | CFB | Human | macular degeneration | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Macular degeneration | ClinVar | PMID:21541267 more ... | CFB | Human | macular degeneration | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Macular degeneration | ClinVar | PMID:16518403 more ... | CFB | Human | macular degeneration | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Macular degeneration | ClinVar | PMID:16518403 more ... | CFB | Human | macular degeneration | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Macular degeneration | ClinVar | PMID:24652797 more ... | CFB | Human | macular degeneration | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Macular degeneration | ClinVar | PMID:20108004 more ... | CFB | Human | macular degeneration | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Macular degeneration | ClinVar | PMID:23847193 more ... | CFB | Human | macular degeneration | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Macular degeneration | ClinVar | PMID:25741868 and PMID:28492532 | CFB | Human | neutropenia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neutropenia | ClinVar | | CFB | Human | proteasome-associated autoinflammatory syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 | ClinVar | PMID:28492532 | |