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GENE - TERM ANNOTATION REPORT

RGD ID: 11679387
Species: Pan paniscus
RGD Object: Gene
Symbol: F8
Name: coagulation factor VIII
Acc ID: DOID:12259
Term: hemophilia B
Definition: A blood coagulation disease that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. (DO)
Definition Source(s): http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
F8 ISOF8 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Factor IX deficiency | ClinVar Annotator: match by term: Hereditary factor IX deficiency diseasePMID:10338101 PMID:10404764 PMID:10519986 PMID:10896236 PMID:10910910 PMID:10910913 PMID:11102988 PMID:11298607 PMID:11341489 PMID:11410838 PMID:11442643 PMID:11843836 PMID:11857744 PMID:12139751 PMID:12204009 PMID:12871415 PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 PMID:15569173 PMID:15625837 PMID:15810915 PMID:15921397 PMID:15996930 PMID:16128892 PMID:16173970 PMID:16601827 PMID:1671991 PMID:16769589 PMID:16786531 PMID:16834740 PMID:16972227 PMID:17222201 PMID:17445092 PMID:17610549 PMID:18034822 PMID:18387975 PMID:18403393 PMID:18565236 PMID:18600086 PMID:18691168 PMID:1908096 PMID:1924291 PMID:19456877 PMID:19473408 PMID:19473423 PMID:19719828 PMID:1979502 PMID:20102490 PMID:20148980 PMID:20193250 PMID:20300295 PMID:20331753 PMID:20533009 PMID:20800587 PMID:20860608 PMID:2104741 PMID:2106480 PMID:21070499 PMID:21371196 PMID:21645180 PMID:21751985 PMID:21838755 PMID:21883705 PMID:22103590 PMID:23625609 PMID:23711294 PMID:23812942 PMID:23926300 PMID:2493803 PMID:2498882 PMID:2506948 PMID:25741868 PMID:25824987 PMID:25854144 PMID:2833855 PMID:29296726 PMID:2987704 PMID:31064749 PMID:32166871 PMID:34355501 PMID:6438527 PMID:7728145 PMID:7794769 PMID:8281136 PMID:8307558 PMID:8449505 PMID:8490618 PMID:8547094 PMID:8584995 PMID:8639447 PMID:8644728 PMID:9326186 PMID:9452104 PMID:9569189 PMID:9829908 PMID:9886318
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