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GENE - TERM ANNOTATION REPORT

RGD ID: 1351480
Species: Homo sapiens
RGD Object: Gene
Symbol: ABCB7
Name: ATP binding cassette subfamily B member 7
Acc ID: DOID:0050554
Term: X-linked sideroblastic anemia with ataxia
Definition: A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/x-linked-sideroblastic-anemia-and-ataxia "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
ABCB7 IAGP 11038734RGDDNA:missense mutation:exon:p.E433K (1305G>A) (human) 
ABCB7 IAGP 11038735RGDDNA:missense mutation:exon:p.V411L (1299G>C) (human) 
ABCB7susceptibilityIAGP 1598600RGDDNA:missense mutation: :p.I400M (human) 
ABCB7 IAGP 7240710OMIM  
ABCB7 EXP 11554173CTDCTD Direct Evidence: marker/mechanismPMID:21326867
ABCB7 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxiaPMID:25741868 PMID:28492532
ABCB7 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxiaPMID:17576681 PMID:28492532 PMID:9536098
ABCB7 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxiaPMID:28492532
ABCB7 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxiaPMID:25741868
ABCB7 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia 
ABCB7 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxiaPMID:10196363 PMID:4045952
ABCB7 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxiaPMID:11050011
ABCB7 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxiaPMID:11843825
ABCB7 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxiaPMID:22398176
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