Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C0004134
Disease: Ataxia
Ataxia 		0.430 GeneticVariation BEFREE Using whole-genome sequencing on Illumina HiSeq 2000 platform, we found a missense mutation in the ABCB7 (ABC-binding cassette transporter B7) gene, encoding a mitochondrial transporter, involved in heme synthesis and previously associated with sideroblastic anemia and ataxia. 26242992

2016
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C0004134
Disease: Ataxia
Ataxia 		0.430 GeneticVariation BEFREE Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis. 17192398

2007
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C0004134
Disease: Ataxia
Ataxia 		0.430 GeneticVariation BEFREE Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. 11050011

2000