Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C1845028
Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.740 CausalMutation CLINVAR We describe a fourth family with XLSA-A and a novel mutation in the ABCB7 gene. 22398176

2012
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C1845028
Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.740 CausalMutation CLINVAR These data indicate that ABC7 is the causal gene of XLSA/A and that XLSA/A is a mitochondrial disease caused by a mutation in the nuclear genome. 10196363

1999
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C1845028
Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.740 GeneticVariation CLINVAR