F12, coagulation factor XII, 2161

N. diseases: 87; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.970 Biomarker disease CLINGEN Intrinsic Pathway of Coagulation and Thrombosis. 30700128 2019
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.970 Biomarker disease CLINGEN Factor XII deficiency is common in domestic cats and associated with two high frequency F12 mutations. 31022435 2019
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.970 Biomarker disease CLINGEN Genetic analysis of a novel missense mutation (Gly542Ser) with factor XII deficiency in a Chinese patient of consanguineous marriage. 29383625 2018
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.970 Biomarker disease CLINGEN Genetic analysis of a hereditary factor XII deficiency pedigree of a consanguineous marriage due to a homozygous F12 gene mutation: Gly341Arg. 28007010 2017
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.970 Biomarker disease CLINGEN Novel mutations in congenital factor XII deficiency. 26709783 2016
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.970 Biomarker disease GENOMICS_ENGLAND Identification of Genetic Defects Underlying FXII Deficiency in Four Unrelated Chinese Patients. 27003566 2016
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.970 GeneticVariation disease CLINVAR Factor XII Osaka: abnormal factor XII with partially defective prekallikrein cleavage activity. 21264442 2011
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.970 GermlineCausalMutation disease ORPHANET Report 2 cases of congenital factor XII deficiency: a rare coagulation disorder. 22043782 2011
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.970 Biomarker disease CLINGEN Factor XII Osaka: abnormal factor XII with partially defective prekallikrein cleavage activity. 21264442 2011
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.970 GeneticVariation disease BEFREE Novel deleterious mutation in the F12 gene in a Korean family with severe coagulation factor XII deficiency. 20729721 2010
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.970 Biomarker disease CLINGEN Factor XII Ofunato: Lys346Asn mutation associated with blood coagulation factor XII deficiency causes impaired secretion through a proteasome-mediated degradation. 20022356 2010
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.970 GermlineCausalMutation disease ORPHANET Molecular genetic analysis of Korean patients with coagulation factor XII deficiency. 20386432 2010
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.970 Biomarker disease CLINGEN Molecular genetic analysis of Korean patients with coagulation factor XII deficiency. 20386432 2010
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.970 GeneticVariation disease LHGDN A novel mutation in a patient with congenital coagulation factor XII deficiency. 18710647 2008
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.970 Biomarker disease CLINGEN Molecular analysis of multiple genetic variants in Spanish FXII-deficient families. 18024408 2007
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.970 Biomarker disease MGD Targeting coagulation factor XII provides protection from pathological thrombosis in cerebral ischemia without interfering with hemostasis. 16533887 2006
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.970 GeneticVariation disease UNIPROT Factor XII Shizuoka, a novel mutation (Ala392Thr) identified and characterized in a patient with congenital coagulation factor XII deficiency. 15617741 2005
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.970 GeneticVariation disease UNIPROT Genetic analyses and expression studies identified a novel mutation (W486C) as a molecular basis of congenital coagulation factor XII deficiency. 15205584 2004
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.970 Biomarker disease CLINGEN Targeted deletion of murine coagulation factor XII gene-a model for contact phase activation in vivo. 15351846 2004
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.970 Biomarker disease CLINGEN Genetic analyses and expression studies identified a novel mutation (W486C) as a molecular basis of congenital coagulation factor XII deficiency. 15205584 2004
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.970 GeneticVariation disease UNIPROT Identification and characterization of two novel mutations (Q421 K and R123P) in congenital factor XII deficiency. 11776307 2001
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.970 GeneticVariation disease UNIPROT Factor XII Tenri, a novel cross-reacting material negative factor XII deficiency, occurs through a proteasome-mediated degradation. 10361128 1999
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.970 GeneticVariation disease UNIPROT Mutations in the human factor XII gene. 9354665 1997
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.970 GeneticVariation disease UNIPROT The novel acceptor splice site mutation 11396(G-->A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients. 8528215 1995
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		0.970 GeneticVariation disease UNIPROT Coagulation factor XII Locarno: the functional defect is caused by the amino acid substitution Arg 353-->Pro leading to loss of a kallikrein cleavage site. 8049433 1994