Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2161
Gene Symbol: F12
F12
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency
0.970 Biomarker CLINGEN Intrinsic Pathway of Coagulation and Thrombosis. 30700128

2019

Entrez Id: 2161
Gene Symbol: F12
F12
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency
0.970 Biomarker CLINGEN Factor XII deficiency is common in domestic cats and associated with two high frequency F12 mutations. 31022435

2019

Entrez Id: 2161
Gene Symbol: F12
F12
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency
0.970 Biomarker CLINGEN Genetic analysis of a novel missense mutation (Gly542Ser) with factor XII deficiency in a Chinese patient of consanguineous marriage. 29383625

2018

Entrez Id: 2161
Gene Symbol: F12
F12
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency
0.970 Biomarker CLINGEN Genetic analysis of a hereditary factor XII deficiency pedigree of a consanguineous marriage due to a homozygous F12 gene mutation: Gly341Arg. 28007010

2017

Entrez Id: 2161
Gene Symbol: F12
F12
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency
0.970 Biomarker CLINGEN Novel mutations in congenital factor XII deficiency. 26709783

2016

Entrez Id: 2161
Gene Symbol: F12
F12
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency
0.970 Biomarker CLINGEN Factor XII Osaka: abnormal factor XII with partially defective prekallikrein cleavage activity. 21264442

2011

Entrez Id: 2161
Gene Symbol: F12
F12
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency
0.970 Biomarker CLINGEN Factor XII Ofunato: Lys346Asn mutation associated with blood coagulation factor XII deficiency causes impaired secretion through a proteasome-mediated degradation. 20022356

2010

Entrez Id: 2161
Gene Symbol: F12
F12
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency
0.970 Biomarker CLINGEN Molecular genetic analysis of Korean patients with coagulation factor XII deficiency. 20386432

2010

Entrez Id: 2161
Gene Symbol: F12
F12
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency
0.970 Biomarker CLINGEN Molecular analysis of multiple genetic variants in Spanish FXII-deficient families. 18024408

2007

Entrez Id: 2161
Gene Symbol: F12
F12
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency
0.970 Biomarker CLINGEN Targeted deletion of murine coagulation factor XII gene-a model for contact phase activation in vivo. 15351846

2004

Entrez Id: 2161
Gene Symbol: F12
F12
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency
0.970 Biomarker CLINGEN Genetic analyses and expression studies identified a novel mutation (W486C) as a molecular basis of congenital coagulation factor XII deficiency. 15205584

2004