Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2155
Gene Symbol: F7
F7
CUI: C0015503
Disease: Factor VII Deficiency
Factor VII Deficiency 		0.740 Biomarker CLINGEN Sustained correction of FVII deficiency in dogs using AAV-mediated expression of zymogen FVII. 26702064

2016
Entrez Id: 2155
Gene Symbol: F7
F7
CUI: C0015503
Disease: Factor VII Deficiency
Factor VII Deficiency 		0.740 Biomarker CLINGEN Compound heterozygous mutations (p.Leu13Pro and p.Tyr294*) associated with factor VII deficiency cause impaired secretion through ineffective translocation and extensive intracellular degradation of factor VII. 23141848

2013
Entrez Id: 2155
Gene Symbol: F7
F7
CUI: C0015503
Disease: Factor VII Deficiency
Factor VII Deficiency 		0.740 Biomarker CLINGEN Lethal factor VII deficiency due to novel mutations in the F7 promoter: functional analysis reveals disruption of HNF4 binding site. 22628013

2012
Entrez Id: 2155
Gene Symbol: F7
F7
CUI: C0015503
Disease: Factor VII Deficiency
Factor VII Deficiency 		0.740 Biomarker CLINGEN Severe factor VII deficiency with recurrent intracranial haemorrhages owing to double heterozygosity for a splice site mutation of an IVS4 and a novel nonsense mutation in exon 8 (Gln211-->Term). 11529858

2001
Entrez Id: 2155
Gene Symbol: F7
F7
CUI: C0015503
Disease: Factor VII Deficiency
Factor VII Deficiency 		0.740 Biomarker CLINGEN Two novel factor VII gene mutations in a Chinese family with factor VII deficiency. 11091194

2000
Entrez Id: 2155
Gene Symbol: F7
F7
CUI: C0015503
Disease: Factor VII Deficiency
Factor VII Deficiency 		0.740 Biomarker CLINGEN Molecular characterisation and three-dimensional structural analysis of mutations in 21 unrelated families with inherited factor VII deficiency. 10959697

2000
Entrez Id: 2155
Gene Symbol: F7
F7
CUI: C0015503
Disease: Factor VII Deficiency
Factor VII Deficiency 		0.740 Biomarker CLINGEN Mice lacking factor VII develop normally but suffer fatal perinatal bleeding. 9384381

1997
Entrez Id: 2155
Gene Symbol: F7
F7
CUI: C0015503
Disease: Factor VII Deficiency
Factor VII Deficiency 		0.740 Biomarker CLINGEN A Thr359Met mutation in factor VII of a patient with a hereditary deficiency causes defective secretion of the molecule. 8652821

1996
Entrez Id: 2155
Gene Symbol: F7
F7
CUI: C0015503
Disease: Factor VII Deficiency
Factor VII Deficiency 		0.740 Biomarker CLINGEN The molecular basis of blood coagulation. 3286010

1988