Gene: SEC23B ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B 		0.800 GermlineCausalMutation disease ORPHANET
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B 		0.800 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B 		0.800 GeneticVariation disease BEFREE Type II congenital dyserythropoietic anaemia (CDA-II or HEMPAS) is an autosomal recessive disorder, representing the most frequent form of congenital dyserythropoiesis. 11281393 2001
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B 		0.800 GeneticVariation disease BEFREE Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now? 19150496 2009
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B 		0.800 GeneticVariation disease BEFREE Congenital dyserythropoietic anemia, type II with SEC23B exon 12 c.1385 A → G mutation, and pseudo-Gaucher cells in two siblings. 24801240 2015
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B 		0.800 GeneticVariation disease BEFREE Congenital dyserythropoietic anemia type II (CDA II) or HEMPAS is a genetic disease caused by plasma membrane abnormality. 2495036 1989
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B 		0.800 GeneticVariation disease BEFREE Congenital dyserythropoietic anemia type II (CDAII) is an inherited hyporegenerative anemia due to biallelic mutations in the SEC23B gene. 31400017 2019
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B 		0.800 CausalMutation disease CLINVAR Sec23B protein content was analyzed by immunoblotting in samples of erythroblast cells from CDAII patients and healthy controls. 22208203 2011
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B 		0.800 Biomarker disease GENOMICS_ENGLAND Sec23B protein content was analyzed by immunoblotting in samples of erythroblast cells from CDAII patients and healthy controls. 22208203 2011
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B 		0.800 GeneticVariation disease BEFREE E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II. 21252497 2011
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B 		0.800 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B 		0.800 Biomarker disease BEFREE After the identification of the locus for CDA II, also known as HEMPAS (hereditary erythroblast multinuclearity with positive acidified serum test), on the long arm of chromosome 20 (20q11.2) we have analyzed by a mutational search seven candidate genes in a large series of CDA II patients. 12667984 2004
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B 		0.800 Biomarker disease GENOMICS_ENGLAND CDAII presenting as hydrops foetalis: molecular characterization of two cases. 20381388 2010
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B 		0.800 Biomarker disease BEFREE Confirmation of CDAII can subsequently be made based on clinical presentation together with either bone marrow examination or DNA sequencing of SEC23B. 27784127 2018
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B 		0.800 CausalMutation disease CLINVAR E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II. 21252497 2011
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B 		0.800 GeneticVariation disease BEFREE Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II. 23453696 2013
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B 		0.800 CausalMutation disease CLINVAR Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II. 23453696 2013
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B 		0.800 GeneticVariation disease CLINVAR Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II. 23453696 2013
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B 		0.800 GeneticVariation disease BEFREE Identification of a Novel Mutation in the SEC23B Gene Associated With Congenital Dyserythropoietic Anemia Type II Through the Use of Next-generation Sequencing Panel in an Undiagnosed Case of Nonimmune Hereditary Hemolytic Anemia. 29846281 2018
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B 		0.800 Biomarker disease BEFREE In humans, SEC23B deficiency results in congenital dyserythropoietic anemia type-II (CDAII), while SEC23A deficiency results in a skeletal phenotype (with normal red blood cells). 30065114 2018
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B 		0.800 CausalMutation disease CLINVAR Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship. 20015893 2010
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B 		0.800 GeneticVariation disease BEFREE Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene. 20941788 2010
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B 		0.800 CausalMutation disease CLINVAR Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene. 20941788 2010
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B 		0.800 Biomarker disease GENOMICS_ENGLAND Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. 19561605 2009
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B 		0.800 GeneticVariation disease BEFREE Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. 19561605 2009