Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.100 CausalMutation CLINVAR Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores. 25044164

2014
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.100 CausalMutation CLINVAR Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. 19621418

2009
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.100 CausalMutation CLINVAR Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. 19561605

2009