Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1845028
Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.740 Biomarker disease GENOMICS_ENGLAND Congenital sideroblastic anemia: Advances in gene mutations and pathophysiology. 29787825 2018
CUI: C1845028
Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.740 Biomarker disease BEFREE Independent predictive factors for 10-year survival were age at resection (p < 0.001; OR = 0.898; 95%-CI: 0.846-0.954), UICC 7 tumor staging (p = 0.003; OR = 0.344; 95%-CI: 0.126-0.941) and ASAT (GOT) in U/l divided by Quick in percent multiplied by the extent of liver resection graded in points labelled as the resection severity index (p < 0.001; OR = 0.136; 95%-CI: 0.022-0.843) enabling prediction of 10-year survival with an AUROC of 0.884. 28577724 2017
CUI: C1845028
Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.740 CausalMutation disease CLINVAR We describe a fourth family with XLSA-A and a novel mutation in the ABCB7 gene. 22398176 2012
CUI: C1845028
Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.740 GeneticVariation disease BEFREE We describe a fourth family with XLSA-A and a novel mutation in the ABCB7 gene. 22398176 2012
CUI: C1845028
Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.740 GeneticVariation disease UNIPROT We describe a fourth family with XLSA-A and a novel mutation in the ABCB7 gene. 22398176 2012
CUI: C1845028
Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.740 Biomarker disease CTD_human SOD2 deficient erythroid cells up-regulate transferrin receptor and down-regulate mitochondrial biogenesis and metabolism. 21326867 2011
CUI: C1845028
Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.740 GeneticVariation disease UNIPROT This study supports the recently hypothesized involvement of the ABC7 gene in XLSA/A and highlights a protein structure region of importance to this syndrome. 11843825 2001
CUI: C1845028
Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.740 Biomarker disease BEFREE This study supports the recently hypothesized involvement of the ABC7 gene in XLSA/A and highlights a protein structure region of importance to this syndrome. 11843825 2001
CUI: C1845028
Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.740 Biomarker disease GENOMICS_ENGLAND This study supports the recently hypothesized involvement of the ABC7 gene in XLSA/A and highlights a protein structure region of importance to this syndrome. 11843825 2001
CUI: C1845028
Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.740 GeneticVariation disease UNIPROT Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. 11050011 2000
CUI: C1845028
Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.740 Biomarker disease GENOMICS_ENGLAND Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. 11050011 2000
CUI: C1845028
Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.740 CausalMutation disease 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
CUI: C1845028
Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.740 Biomarker disease BEFREE 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
CUI: C1845028
Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.740 GeneticVariation disease UNIPROT 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
CUI: C1845028
Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C1845028
Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.740 GeneticVariation disease CLINVAR