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GENE - TERM ANNOTATION REPORT

CRRD ID: 2589
Species: Rattus norvegicus
CRRD Object: Gene
Symbol: F9
Name: coagulation factor IX
Acc ID: DOID:12259
Term: hemophilia B
Definition: A deficiency of blood coagulation factor IX inherited as an X-linked disorder. (Also known as Christmas Disease, after the first patient studied in detail, not the holy day.) Historical and clinical features resemble those in classic hemophilia (HEMOPHILIA A), but patients present with fewer symptoms. Severity of bleeding is usually similar in members of a single family. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma. Treatment is similar to that for hemophilia A. (From Cecil Textbook of Medicine, 19th ed, p1008)
Definition Source(s): MESH:D002836, http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:1055910450762CRRD  
 ISORGD:7356207240710OMIM  
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

 
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:10942410
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:10980527
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:12780784, PMID:12997790, PMID:1615485
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:1346483
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:1346975
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:1598234, PMID:1897528, PMID:8318985
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:1615486
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:1902289, PMID:2066105, PMID:2220823, PMID:2494175, PMID:3401602
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:1958666
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:19815722
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:19846852
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:1986380
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:1998585
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:2198809
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:2320433
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:2339358
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:2355000, PMID:3790720
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:2370049
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:2714791
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:2738071, PMID:2757966, PMID:3009023
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:2741941
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:2741941, PMID:2773937, PMID:2841226, PMID:2846283, PMID:2848757, PMID:2886685, PMID:2992643, PMID:3029178, PMID:3411192, PMID:4045960, PMID:6843667
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:2743975
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:2743975, PMID:3392024
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:2753873
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:2773937
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:2821070
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:2831715
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:2875754
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:2929599
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:3029178
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:4033760
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:8178822
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:8199596
 ISORGD:7356208554872ClinVarClinVar Annotator: match by OMIM:306900

PMID:8478007
 ISORGD:7356208554872ClinVarClinVar Annotator: match by synonym: Hemophilia B Leyden

PMID:1631121, PMID:3416069, PMID:5450691, PMID:7062952
 ISORGD:7356208554872ClinVarClinVar Annotator: match by synonym: Hemophilia B Leyden

PMID:1733855, PMID:8499951
 ISORGD:7356208554872ClinVarClinVar Annotator: match by synonym: Hemophilia B Leyden

PMID:2004020
 ISORGD:7356208554872ClinVarClinVar Annotator: match by synonym: Hemophilia B Leyden

PMID:2342576, PMID:2917196, PMID:3416069
 ISORGD:7356208554872ClinVarClinVar Annotator: match by synonym: Hemophilia B Leyden

PMID:2388855
 ISORGD:7356208554872ClinVarClinVar Annotator: match by synonym: Hemophilia B Leyden

PMID:2714791, PMID:8478007
 ISORGD:7356208554872ClinVarClinVar Annotator: match by synonym: Hemophilia B Leyden

PMID:2917196
 ISORGD:7356208554872ClinVarClinVar Annotator: match by synonym: HEMOPHILIA B(M)

PMID:2372509, PMID:4163943, PMID:884315
 ISORGD:7356208554872ClinVarClinVar Annotator: match by term: Hemophilia B

PMID:10094553, PMID:10698280, PMID:28492532, PMID:8320491
 ISORGD:7356208554872ClinVarClinVar Annotator: match by term: Hemophilia B

PMID:1346975, PMID:19699296, PMID:22544209, PMID:2472424, PMID:25741868, PMID:28492532, PMID:2929599, PMID:29993188
 ISORGD:7356208554872ClinVarClinVar Annotator: match by term: Hemophilia B

PMID:18624698, PMID:1969838, PMID:2198809, PMID:23093250, PMID:25470321, PMID:2743975, PMID:27824213, PMID:28492532
 ISORGD:7356208554872ClinVarClinVar Annotator: match by term: Hemophilia B

PMID:1864609, PMID:2066105, PMID:22639855, PMID:25741868, PMID:2773937, PMID:28492532, PMID:5298508
 ISORGD:7356208554872ClinVarClinVar Annotator: match by term: Hemophilia B

PMID:19522246, PMID:25741868
 ISORGD:7356208554872ClinVarClinVar Annotator: match by term: Hemophilia B

PMID:19699296, PMID:22639855, PMID:2472424, PMID:2762170, PMID:28492532, PMID:2929599, PMID:3262389
 ISORGD:7356208554872ClinVarClinVar Annotator: match by term: Hemophilia B

PMID:20301668, PMID:28492532
 ISORGD:7356208554872ClinVarClinVar Annotator: match by term: Hemophilia B

PMID:2087690, PMID:25741868, PMID:2773937, PMID:6603618
 ISORGD:7356208554872ClinVarClinVar Annotator: match by term: Hemophilia B

PMID:2198809, PMID:24375831, PMID:28492532, PMID:3029178, PMID:4045960, PMID:8304338
 ISORGD:7356208554872ClinVarClinVar Annotator: match by term: Hemophilia B

PMID:23472758, PMID:2352926, PMID:28492532, PMID:7677806
 ISORGD:7356208554872ClinVarClinVar Annotator: match by term: Hemophilia B

PMID:23617593, PMID:2773937, PMID:28492532
 ISORGD:7356208554872ClinVarClinVar Annotator: match by term: Hemophilia B

PMID:23617593, PMID:28492532
 ISORGD:7356208554872ClinVarClinVar Annotator: match by term: Hemophilia B

PMID:2438804
 ISORGD:7356208554872ClinVarClinVar Annotator: match by term: Hemophilia B

PMID:2472424
 ISORGD:7356208554872ClinVarClinVar Annotator: match by term: Hemophilia B

PMID:25326637, PMID:25741868
 ISORGD:7356208554872ClinVarClinVar Annotator: match by term: Hemophilia B

PMID:25741868, PMID:2773937
 ISORGD:7356208554872ClinVarClinVar Annotator: match by term: Hemophilia B

PMID:25741868, PMID:3181127
 ISORGD:7356208554872ClinVarClinVar Annotator: match by term: Hemophilia B

PMID:2592373, PMID:734633
 ISORGD:7356208554872ClinVarClinVar Annotator: match by term: Hemophilia B

PMID:2775660
 ISORGD:7356208554872ClinVarClinVar Annotator: match by term: Hemophilia B

PMID:28492532
 ISORGD:7356208554872ClinVarClinVar Annotator: match by term: Hemophilia B

PMID:2873459
 ISORGD:7356208554872ClinVarClinVar Annotator: match by term: Hemophilia B

PMID:28752769
 ISORGD:7356208554872ClinVarClinVar Annotator: match by term: Hemophilia B

PMID:3243764, PMID:734633
 ISORGD:7356208554872ClinVarClinVar Annotator: match by term: Hemophilia B

PMID:7101232, PMID:734633
 ISORGD:7356208554872ClinVarClinVar Annotator: match by term: Hemophilia B

PMID:9590153
 ISORGD:7356208554872ClinVarClinVar Annotator: match by term: Hemophilia B Brandenburg

PMID:1631121, PMID:1631558
 ISORGD:7356208554872ClinVarClinVar Annotator: match by term: Hemophilia b(m)

PMID:2563663, PMID:734633, PMID:8352232
 ISORGD:7356208554872ClinVarClinVar Annotator: match by term: Hemophilia B, Factor IX Deficiency

PMID:18349091, PMID:2450455, PMID:2564457, PMID:25741868, PMID:3857619
 ISORGD:7356209685705CRRD  
 ISORGD:73562010450759CRRDDNA:nonsense mutation:cds:p.R338X (human)

 
 ISORGD:73562010450760CRRDDNA:mutations:cds:P.G396R, K411X, I397T(human)

 
 ISORGD:73562011554173CTDCTD Direct Evidence: marker/mechanism

PMID:2388855, PMID:7062952
treatmentISORGD:73562010450761CRRD  
treatmentISORGD:73562010450764CRRD  
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.